# description
Phenotypic abnormalities encountered in human disease

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Indicates if the concept is imported from another code system.

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Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)

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Indicates if this concept is deprecated.

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Calcification of the auricular cartilage

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Premature birth following premature rupture of fetal membranes

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immunoglobulin gamma Fc receptor II/III/IV

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Complete congenital stationary night blindness

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Abnormality of the middle phalanx of the 3rd toe

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Insufficient response to short acting pulmonary vasodilator

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carcinoembryonic antigen-related cell adhesion molecule 8

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Abnormality of the proximal phalanx of the 4th toe

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Bullet-shaped proximal phalanx of the 2nd toe

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Transitional cell carcinoma of the bladder

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regulation of sister chromatid segregation

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negative regulation of circadian sleep/wake cycle, REM sleep

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Abnormal common tendinous ring morphology

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positive regulation of peripheral tolerance induction

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Contracture of proximal interphalangeal joints of 2nd-5th fingers

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cytokine secretion involved in immune response

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Abnormal proportion of double-negative alpha-beta regulatory T cell

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killer cell lectin-like receptor subfamily B member 1C

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Aplasia/Hypoplasia involving bones of the thorax

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cytokine production involved in immune response

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leukocyte activation involved in immune response

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Abnormality of cardiovascular system morphology

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Abnormal lymphocyte surface marker expression

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Decreased lymphocyte proliferation in response to anti-CD3

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Decreased lymphocyte proliferation in response to mitogen

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serotonin production involved in inflammatory response

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inner epithelial layer of tympanic membrane

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histamine production involved in inflammatory response

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positive regulation of immune system process

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regulation of anatomical structure morphogenesis

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negative regulation of leukocyte migration

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positive regulation of leukocyte migration

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negative regulation of response to DNA damage stimulus

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regulation of response to DNA damage stimulus

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Dextrotransposition of the great arteries

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Macrodontia of permanent maxillary central incisor

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ossification involved in bone maturation

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cellular nitrogen compound metabolic process

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Fatty replacement of ventricular myocardial tissue

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Decreased proportion of CD3-positive T cells

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Abnormal amplitude of pattern reversal visual evoked potentials

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Defective GALE does not epimerise UDP-Gal to UDP-Glc

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GALE:NAD+ dimer reversibly epimerises UDP-Gal to UDP-Glc

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Aplasia/hypoplasia involving bones of the extremities

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negative regulation of multi-organism process

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Abnormality of the lumbosacral nerve plexus

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Abnormality of the brachial nerve plexus

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receptor-type tyrosine-protein phosphatase C, signal peptide removed form (human)

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regulation of response to cytokine stimulus

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Congenital malformation of the left heart

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Abnormal peripheral action potential amplitude

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Abnormal ossification of the trapezoid bone

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Cone-shaped epiphyses fused within their metaphyses

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prolactin, signal peptide removed form (human)

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Patchy sclerosis of the proximal phalanx of the 2nd toe

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HHAT palmitoylates Hh N-terminal fragment

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MLCL and PE are converted to CL and 1-acyl LPE by TAZ (IM) (Reversible)

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MLCL and PC are converted to CL and 1-acyl LPC by TAZ (IM) (Reversible)

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glucosaminyl-PI + fatty acyl-CoA -> glucosaminyl-acyl-PI + CoA-SH

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nucleotide phosphorylation involved in DNA repair

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Absent ossification of capital femoral epiphysis

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Delayed proximal femoral epiphyseal ossification

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Cone-shaped epiphysis of the proximal phalanx of the 4th toe

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regulation of circadian sleep/wake cycle, sleep

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membrane-spanning 4-domains subfamily A member 1

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Abnormal peripheral nervous system synaptic transmission

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Addition of a GlcNAc on the alpha 1,4 branch by MGAT2

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Defective MGAT2 does not transfer GlcNAc to N-glycans

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Fatigable weakness of swallowing muscles

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Fatigable weakness of respiratory muscles

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Osteomyelitis leading to amputation due to slow healing fractures

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Femoral bowing present at birth, straightening with time

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Aplasia/Hypoplasia of the capital femoral epiphysis

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Early progressive calcific cardiac valvular disease

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Short chordae tendineae of the tricuspid valve

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Ventricular preexcitation with multiple accessory pathways

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Macular hypopigmented whorls, streaks, and patches

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Abnormal CSF aspartate family amino acid concentration

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Thickening of the lateral border of the scapula

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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

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T cell differentiation involved in immune response

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negative regulation of signal transduction

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positive regulation of signal transduction

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modification of morphology or physiology of other organism involved in symbiotic interaction

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T cell activation involved in immune response

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lymphocyte activation involved in immune response

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myeloid dendritic cell differentiation involved in immune response

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Monoclonal elevation of IgG lambda chain

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myeloid dendritic cell activation involved in immune response

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myeloid cell activation involved in immune response

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positive regulation of morphogenesis of an epithelium

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Decreased number of sternal ossification centers

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leukocyte activation involved in inflammatory response

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cell activation involved in immune response

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negative regulation of lipid metabolic process

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Abnormal response to gonadotropin-releasing hormone stimulation test

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wound healing involved in inflammatory response

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Abnormal CD25 upregulation upon TCR activation

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Decreased CD69 upregulation upon TCR activation

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Abnormal CD69 upregulation upon TCR activation

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leukocyte chemotaxis involved in immune response

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leukocyte chemotaxis involved in inflammatory response

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Arteriovenous malformation of the maxilla

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Anomalous origin of left subclavian artery

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T-cell acute lymphocytic leukemia protein 1 homolog (zebrafish)

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Agenesis of permanent mandibular lateral incisor

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somatic diversification of immune receptors

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EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor

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Increased pituitary glycoprotein hormone alpha subunit level

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Aplasia/Hypoplasia of the middle phalanx of the 4th toe

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Reduced quantity of Von Willebrand factor

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p-hydroxyphenylpyruvate + O2 => homogentisate + CO2

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Aplasia of the proximal phalanx of the 5th toe

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Aplasia of the middle phalanges of the toes

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receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed glycosylated form

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receptor-type tyrosine-protein phosphatase C isoform CD45R, signal peptide removed glycosylated form

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negative regulation of cell population proliferation

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positive regulation of cell population proliferation

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regulation of G protein-coupled receptor signaling pathway

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positive regulation of production of molecular mediator of immune response

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regulation of lymphocyte mediated immunity

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positive regulation of lymphocyte mediated immunity

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regulation of vesicle targeting, to, from or within Golgi

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Abnormal Pelli Robson contrast sensitivity chart test

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negative regulation of T cell mediated immunity

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positive regulation of T cell mediated immunity

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regulation of cytokine production involved in immune response

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negative regulation of cytokine production involved in immune response

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regulation of cell proliferation involved in tissue homeostasis

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positive regulation of cytoskeleton organization

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negative regulation of cytoskeleton organization

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Kit-negative, Ly-76 high basophilic erythroblast

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negative regulation of response to cytokine stimulus

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positive regulation of response to cytokine stimulus

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Irregular ossification at anterior rib ends

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Congenital pseudoarthrosis of the clavicle

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Intrahepatic cholestasis with episodic jaundice

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Reduced number of intrahepatic bile ducts

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Grade III preterm intraventricular hemorrhage

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Grade IV preterm intraventricular hemorrhage

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positive regulation of catabolic process

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negative regulation of catabolic process

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positive regulation of metabolic process

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negative regulation of metabolic process

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positive regulation of biosynthetic process

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negative regulation of biosynthetic process

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negative regulation of meiotic cell cycle

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positive regulation of meiotic cell cycle

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Malformation of the hepatic ductal plate

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positive regulation of epithelial tube formation

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negative regulation of epithelial tube formation

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Decreased mitochondrial complex III activity in liver tissue

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Chronic obstructive airway disease from birth

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Deep cerebral white matter hyperdensities

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regulation of myeloid leukocyte differentiation

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Apical hypertrabeculation of the left ventricle

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Increased density of left ventricular trabeculae

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Abnormal morphology of right ventricular trabeculae

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Abnormal morphology of left ventricular trabeculae

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Deep dermal perivascular inflammatory infiltrate

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Abnormality of circulating pregnenolone level

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Abnormality of limb epiphysis morphology

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Abnormality of lower limb epiphysis morphology

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negative regulation of mitotic chromosome condensation

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Triggered by ingestion of potassium-rich food

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Reduced volume of central subdivision of bed nucleus of stria terminalis

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T-cell surface glycoprotein CD8 beta chain isoform 1

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Weakness of long finger extensor muscles

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Increased Arden ratio of electrooculogram

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Globe retraction and deviation on abduction

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Abnormal B-type natriuretic peptide level

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straight-chain saturated fatty acid anion

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branched-chain saturated fatty acid anion

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Dysplastic gangliocytoma of the cerebellum

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Bicuspid aortic valve with right-left cusp fusion

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Increased adipose tissue around the neck

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Abnormal resting energy expenditure from metabolic cart test

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Aplasia of the musculature of the pelvis

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regulation of skeletal muscle contraction by action potential

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vesicle targeting, to, from or within Golgi

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urokinase plasminogen activator surface receptor, signal peptide removed form (human)

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Abnormal natural killer subset distribution

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Delayed canalization of nasolacrimal duct

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Fragmentation of the epiphysis of the proximal phalanx of the thumb

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positive regulation of macromolecule metabolic process

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distal interphalangeal joint of manual digit 2

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Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

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transmembrane emp24 domain-containing protein 1

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distal interphalangeal joint of manural digit 5

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lumen of terminal part of digestive tract

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positive regulation of vasculature development

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Abnormality of the distal ulnar epiphysis

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Extension of hair growth on temples to lateral eyebrow

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T-cell surface glycoprotein CD8 beta chain

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T-cell surface glycoprotein CD8 alpha chain

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Abnormality of the epiphyses of the feet

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Increased anti-parasite IgE antibody level

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Aplasia/hypoplasia involving bones of the upper limbs

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Aplasia/Hypoplasia involving bones of the feet

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Aplasia/hypoplasia involving bones of the lower limbs

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Abnormality of the third metatarsal bone

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negative regulation of oxidoreductase activity

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positive regulation of oxidoreductase activity

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Low tissue non-specific alkaline phosphatase

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embryo development ending in birth or egg hatching

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negative regulation of transferase activity

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positive regulation of transferase activity

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negative regulation of hydrolase activity

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positive regulation of hydrolase activity

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Periosteal thickening of long tubular bones

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Excessive skin wrinkling on dorsum of hands and fingers

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receptor-type tyrosine-protein phosphatase C isoform CD45RA

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receptor-type tyrosine-protein phosphatase C isoform CD45R

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Lateral displacement of the femoral head

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Multicentric ossification of proximal femoral epiphyses

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Increased density of long bone diaphyses

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Complete duplication of the proximal phalanx of the 4th toe

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Complete duplication of the proximal phalanx of the 5th toe

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Partial duplication of the distal phalanx of the 3rd toe

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Partial duplication of the distal phalanx of the 4th toe

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Enlargement of the distal femoral epiphysis

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Disproportionate prominence of the femoral medial condyle

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regulation of respiratory gaseous exchange by nervous system process

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Peg-like central prominence of distal tibial metaphyses

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Abnormal response to human chorionic gonadotrophin stimulation test

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Impaired growth-hormone response to glucagon stimulation test

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Impaired cortisol response to glucagon stimulation test

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Abnormal response to glucagon stimulation test

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cell surface receptor signaling pathway involved in cell-cell signaling

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Bullet-shaped middle phalanx of the 5th toe

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Impaired growth-hormone response to insulin stimulation test

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Impaired cortisol response to corticotropin releasing hormone stimulation test

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Abnormal response to ACTH stimulation test

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Abnormal response to endocrine stimulation test

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Anomalous origin of the right subclavian artery from the descending aorta

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Impairment of activities of daily living

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Abnormal branching pattern of left aortic arch

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Coarctation in the transverse aortic arch

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Elevated vascular endothelial growth factor level

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ceruloplasmin, signal peptide removed form (human)

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Confluent hypointensity of cerebral white matter on MRI

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Multifocal hypointensity of cerebral white matter on MRI

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Focal hypointensity of cerebral white matter on MRI

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Multifocal hyperintensity of cerebral white matter on MRI

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Focal hyperintensity of cerebral white matter on MRI

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Abnormal morphology of the olfactory bulb

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Abnormal insulin like growth factor binding protein acid labile subunit level

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Incomplete partition of the cochlea type II

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Reduced brain gamma-aminobutyric acid level by MRS

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EEG with periodic lateralized epileptiform discharges

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regulation of mononuclear cell migration

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positive regulation of cell-cell adhesion

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Proximal/middle symphalangism of 3rd toe

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Increased level of circulating aspartic acid

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Elevated red cell adenosine deaminase activity

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Abnormal circulating amino sulfonic acid concentration

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positive regulation of cardiac muscle tissue development

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Reduced lymphocyte surface expression of CD43

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positive regulation of response to DNA damage stimulus

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regulation of alkaline phosphatase activity

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organic cyclic compound biosynthetic process

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Abnormal circulating serine family amino acid concentration

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Abnormality of the musculature of the upper arm

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EC 6.4.1.1 (pyruvate carboxylase) inhibitor

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Increased urinary squamous epithelial cell count

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regulation of fatty acid metabolic process

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cell surface glycoprotein CD200 receptor 3

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Extension of eyebrows towards upper eyelid

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regulation of cellular catabolic process

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regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains

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complement component C1q receptor (mouse)

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positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains

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leukosialin, signal peptide removed form

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negative regulation of type 2 immune response

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Abnormality of the temporomandibular joint

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apoptotic process involved in morphogenesis

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developmental growth involved in morphogenesis

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regulation of cellular component movement

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receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed form

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Neutropenia in presence of anti-neutropil antibodies

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Partial anomalous pulmonary venous return

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negative regulation of necrotic cell death

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positive regulation of lymphocyte activation

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negative regulation of protein metabolic process

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positive regulation of protein metabolic process

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negative regulation of cellular defense response

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positive regulation of multicellular organismal process

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positive regulation of flagellated sperm motility

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regulation of multicellular organismal process

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high affinity immunoglobulin epsilon receptor subunit alpha, signal peptide removed form (human)

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leukosialin, signal peptide removed form (human)

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negative regulation of protein transport

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positive regulation of protein transport

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developmental or adult structural  defect

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homeostasis of number of cells within a tissue

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Oxidative dealkylation of 1-EtA damaged DNA by ABH3

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Oxidative dealkylation of 1-etA damaged DNA By ALKBH2

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Oxidative demethylation of 3-meC damaged DNA by ALKBH2

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Oxidative demethylation of 3-meC damaged DNA By ALKBH3

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Decreased circulating free fatty acid level

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Abnormal peripheral nervous system physiology

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T-cell surface glycoprotein CD8 alpha chain (mouse)

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Abnormal proportion of non-class-switched memory B cells

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Increased proportion of non-class-switched memory B cells

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regulation of membrane lipid metabolic process

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Decreased circulating IgG subclass level

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Hyperintensity of MRI T2 signal of the spinal cord

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Decreased specific antibody response to vaccination

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Increased size of nasopharyngeal adenoids

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Decreased size of nasopharyngeal adenoids

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negative regulation of blood coagulation

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Abnormal size of nasopharyngeal adenoids

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regulation of respiratory gaseous exchange

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Reduced plasminogen activator inhibitor 1 antigen

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Reduced plasminogen activator inhibitor 1 activity

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Increased ratio of VWF propeptide to VWF antigen

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Increased plasma vitamin K epoxide after vitamin K supplementation

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Decreased level of histidine-rich glycoprotein

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Decrease in high molecular weight von Willebrand factor Multimers

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Optic atrophy from cranial nerve compression

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positive regulation of cellular amide metabolic process

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negative regulation of cellular amide metabolic process

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regulation of cellular amide metabolic process

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Abnormal CSF serine family amino acid concentration

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Abnormal presence of ultra-large von Willebrand factor multimers

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Abnormality of the fontanelles or cranial sutures

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immunoglobulin light chain protein (human)

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IgD immunoglobulin complex, circulating (human)

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T-cell surface glycoprotein CD3 epsilon chain (human)

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distal epiphysis of distal phalanx of pedal digit 1

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Persistent asymmetrical tonic neck reflex

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distal epiphysis of distal phalanx of manual digit 1

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distal epiphysis of distal phalanx of manual digit 2

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distal epiphysis of distal phalanx of manual digit 3

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distal epiphysis of distal phalanx of manual digit 4

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Elevated CSF 4-hydroxybutyric acid concentration

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Abnormal Humphrey SITA 30-2 perimetry test

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Abnormality of blood and blood-forming tissues

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ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (human)

# concept[].designation[].value
neural cell adhesion molecule 1, signal peptide removed form (human)

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negative regulation of B cell differentiation

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Lower extremity subcutanous fat hypertrophy

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Developmental stagnation at onset of seizures

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modification of morphology or physiology of other organism

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cell-cell signaling involved in lung development

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negative regulation of coenzyme metabolic process

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positive regulation of coenzyme metabolic process

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regulation of coenzyme metabolic process

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negative regulation of cofactor metabolic process

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positive regulation of cofactor metabolic process

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regulation of cofactor metabolic process

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inner mitochondrial membrane protein complex

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negative regulation of apoptotic process involved in morphogenesis

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EEG with generalized low amplitude activity

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positive regulation of sulfur metabolic process

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negative regulation of sulfur metabolic process

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regulation of phosphorus metabolic process

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positive regulation of nitrogen compound metabolic process

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negative regulation of nitrogen compound metabolic process

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regulation of nitrogen compound metabolic process

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Marked delay in eruption of permanent teeth

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negative regulation of digestive system process

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positive regulation of striated muscle cell differentiation

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negative regulation of striated muscle cell differentiation

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regulation of striated muscle cell differentiation

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positive regulation of glycoprotein biosynthetic process

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negative regulation of glycoprotein biosynthetic process

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T-cell surface glycoprotein CD8 beta chain (human)

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positive regulation of muscle cell differentiation

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negative regulation of muscle cell differentiation

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regulation of muscle cell differentiation

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Abnormality of the epiphyses of the 2nd finger

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Abnormal phalangeal joint morphology of the hand

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Abnormal circulating branched chain amino acid concentration

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positive regulation of cellular component organization

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Swelling of proximal interphalangeal joints

# concept[].display
negative regulation of cellular component organization

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regulation of cellular component organization

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Increased urinary type 1 collagen N-terminal telopeptide level

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T-cell surface glycoprotein CD8 alpha chain (human)

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Shortening of all middle phalanges of the toes

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Increased urinary transitional epithelial cell count

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Osteoarthritis of the distal interphalangeal joint

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Expanded metacarpals with widened medullary cavities

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Tapering pointed ends of distal finger phalanges

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Limited mobility of proximal interphalangeal joint

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Single interphalangeal crease of fifth finger

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Increased circulating creatine kinase MM isoform

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Thin proximal phalanges with broad epiphyses of the hand

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Decreased level of platelet-activating factor

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Increased level of platelet-activating factor

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Abnormal level of platelet-activating factor

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Abnormality of extrinsic muscle of tongue

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Partial-complete absence of 5th phalanges

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Metaphyseal cupping of proximal phalanges

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Hypersegmentation of proximal phalanx of second finger

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Decreased movement range in interphalangeal joints

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Hypermobility of distal interphalangeal joints

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vascular endothelial growth factor receptor 2 (mouse)

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pigment metabolic process involved in pigmentation

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regulation of carbohydrate catabolic process

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Abnormal sensory nerve conduction velocity

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Abnormal motor nerve conduction velocity

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Abnormal blood monovalent inorganic cation concentration

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Impairment of the reflex of the tensor tympani muscle

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Absence of the reflex of the tensor tympani muscle

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Amyloid deposition in the vitreous humor

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Morphological abnormality of the utricle

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Morphological abnormality of the anterior semicircular canal

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Morphological abnormality of the posterior semicircular canal

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Morphological abnormality of the lateral semicircular canal

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Osseous stenosis of the external auditory canal

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Cutaneous stenosis of the external auditory canal

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Cutaneous atresia of the external auditory canal

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Defective DNA repair after ultraviolet radiation damage

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Abnormal distribution of retinal arterioles and venules

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positive regulation of homotypic cell-cell adhesion

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negative regulation of homotypic cell-cell adhesion

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regulation of homotypic cell-cell adhesion

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Decreased pituitary glycoprotein hormone alpha subunit level

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Abnormal pituitary glycoprotein hormone alpha subunit level

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positive regulation of tissue remodeling

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negative regulation of tissue remodeling

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Abnormality of female internal genitalia

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T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form

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T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form

# concept[].display
T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form

# concept[].display
T-cell surface glycoprotein CD8 alpha chain isoform 1

# concept[].display
Abnormal sialylation of O-linked protein glycosylation

# concept[].designation[].value
oxidoreductase activity, acting on the CH-CH group of donors

# concept[].display
signal transduction involved in regulation of aerobic respiration

# concept[].display
intraciliary transport involved in cilium assembly

# concept[].display
metatarsophalangeal joint of pedal digit 5

# concept[].display
metatarsophalangeal joint of pedal digit 3

# concept[].display
positive regulation of developmental process

# concept[].display
proximo-distal subdivision of respiratory tract

# concept[].display
metacarpophalangeal joint of manual digit 5

# concept[].display
metacarpophalangeal joint of manual digit 4

# concept[].display
metacarpophalangeal joint of manual digit 3

# concept[].designation[].value
uracil + NADPH + H+ => 5,6-dihydrouracil + NADP+

# concept[].designation[].value
thymine + NADPH + H+ => 5,6-dihydrothymine + NADP+

# concept[].display
metacarpophalangeal joint of manual digit 2

# concept[].display
metacarpophalangeal joint of manual digit 1

# concept[].display
negative regulation of defense response to bacterium

# concept[].display
regulation of defense response to bacterium

# concept[].display
Absence of stomach bubble on fetal sonography

# concept[].display
Right ventricular outlet tract obstruction

# concept[].display
interleukin-2 receptor subunit alpha (mouse)

# concept[].display
Absence of Lutheran antigen on erythrocytes

# concept[].display
interleukin-2 receptor subunit alpha (human)

# concept[].display
negative regulation of lipid biosynthetic process

# concept[].display
positive regulation of DNA metabolic process

# concept[].display
negative regulation of DNA metabolic process

# concept[].display
Flattened, squared-off epiphyses of tubular bones

# concept[].display
Reduced forced expiratory volume in one second

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Soft tissue swelling of interphalangeal joints

# concept[].display
Short metacarpals with rounded proximal ends

# concept[].display
Abnormality of the common coagulation pathway

# concept[].display
Abnormal morphology of the abdominal musculature

# concept[].display
Osteolysis involving bones of the lower limbs

# concept[].display
Swan neck-like deformities of the fingers

# concept[].display
Abnormality of reproductive system physiology

# concept[].display
Premature fusion of phalangeal epiphyses

# concept[].display
Decreased post-bronchodilator forced expiratory flow 25-75%

# concept[].display
monocyte differentiation antigen CD14 (mouse)

# concept[].display
Shortening of all distal phalanges of the fingers

# concept[].display
Oligoclonal elevation of circulating IgM

# concept[].display
Oligoclonal elevation of circulating IgA

# concept[].display
Increased circulating specific IgE antibody

# concept[].display
Expanded phalanges with widened medullary cavities

# concept[].display
Shortening of all middle phalanges of the fingers

# concept[].display
Patchy atrophy of the retinal pigment epithelium

# concept[].display
intracellular signal transduction involved in positive regulation of cell growth

# concept[].display
Decreased pre-bronchodilator forced expiratory flow 25-75%

# concept[].display
Duplication of the proximal phalanx of the 2nd finger

# concept[].display
Abnormality of the fourth metatarsal bone

# concept[].display
Aplasia/Hypoplasia of the fifth metatarsal bone

# concept[].display
Abnormality of renal glomerulus morphology

# concept[].display
Central retinal vessel vascular tortuosity

# concept[].display
Contracture of the proximal interphalangeal joint of the 5th finger

# concept[].display
Decreased proportion of central memory CD8-positive, alpha-beta T cells

# concept[].display
Decreased proportion of central memory CD4-positive, alpha-beta T cells

# concept[].display
Decreased proportion of effector memory CD4-positive, alpha-beta T cells

# concept[].display
Decreased proportion of CD4-positive, alpha-beta memory T cells

# concept[].display
Decreased proportion of CD8-positive, alpha-beta memory T cells

# concept[].display
Abnormal proportion of effector memory CD4-positive, alpha-beta T cells

# concept[].display
Nodular subcortical heterotopia in peritrigonal regions

# concept[].display
Abnormal proportion of CD4-positive, alpha-beta memory T cells

# concept[].display
Increased activity of mitochondrial respiratory chain

# concept[].display
Increased hepatitis B virus antibody level

# concept[].display
Abnormality of female external genitalia

# concept[].display
T-cell acute lymphocytic leukemia protein 1

# concept[].display
Anti-beta 2 glycoprotein I antibody positivity

# concept[].display
Functional abnormality of male internal genitalia

# concept[].display
interleukin-7 receptor subunit alpha (mouse)

# concept[].display
interleukin-7 receptor subunit alpha (human)

# concept[].display
Two carpal ossification centers present at birth

# concept[].display
Abnormality of neutrophil morphology in CSF

# concept[].display
Increased susceptibility to spontaneous sister chromatid exchange

# concept[].display
Chromosomal breakage induced by ionizing radiation

# concept[].display
Complete or near-complete absence of specific antibody response to meningococcus vaccine

# concept[].display
Decreased post-bronchodilator forced expiratory volume in one second

# concept[].display
Abnormal cellular immune system morphology

# concept[].display
Shortening of all proximal phalanges of the fingers

# concept[].display
Oligoclonal elevation of circulating IgE

# concept[].display
Disproportionate shortening of the tibia

# concept[].display
Abnormal circulating phytanic acid level

# concept[].display
Congenital cystic adenomatoid malformation of the lung

# concept[].display
Abnormality of umbilical vein blood flow

# concept[].display
Abnormality of the fetal cardiovascular system

# concept[].display
Abnormality of ductus venosus blood flow

# concept[].display
Abnormal blood inorganic cation concentration

# concept[].display
Abnormal circulating pyruvate family amino acid concentration

# concept[].display
Abnormality of the cardiovascular system

# concept[].display
Abnormal circulating glutamine family amino acid concentration

# concept[].display
negative regulation of respiratory burst involved in inflammatory response

# concept[].designation[].value
The high affinity receptor complex binds to G-protein

# concept[].display
regulation of macromolecule metabolic process

# concept[].display
1-5 finger complete cutaneous syndactyly

# concept[].display
Abnormality of the second metatarsal bone

# concept[].display
Irregular epiphysis of the proximal phalanx of the 5th finger

# concept[].display
transmembrane emp24 domain-containing protein 1 (mouse)

# concept[].display
Kit-positive, integrin beta7-high basophil mast progenitor cell

# concept[].display
Cone-shaped epiphyses of phalanges 2 to 5

# concept[].display
mast/stem cell growth factor receptor Kit (human)

# concept[].display
Reduced proximal interphalangeal joint space

# concept[].display
individual digit of digitopodial skeleton

# concept[].display
natural killer cell receptor 2B4 (human)

# concept[].display
complement component C1q receptor (human)

# concept[].display
olfactory tract linking bulb to ipsilateral ventral telencephalon

# concept[].display
Decreased specific antibody response to polysaccharide vaccine

# concept[].display
Partial absence of specific antibody response to tetanus vaccine

# concept[].display
Complete or near-complete absence of specific antibody response to hepatitis B vaccine

# concept[].display
Decreased specific antibody response to protein vaccine

# concept[].display
left common carotid artery plus branches

# concept[].display
right common carotid artery plus branches

# concept[].display
Impaired pursuit initiation and maintenance

# concept[].display
regulation of carbohydrate biosynthetic process

# concept[].display
histamine secretion involved in inflammatory response

# concept[].display
Eversion of lateral third of lower eyelids

# concept[].display
Congenital hypertrophy of retinal pigment epithelium

# concept[].display
Osteoarthritis of the first carpometacarpal joint

# concept[].display
Nonarteritic anterior ischemic optic neuropathy

# concept[].display
Cyclic neutropenia in myeloid maturation arrest in bone marrow

# concept[].display
interleukin-2 receptor subunit beta, signal peptide removed form

# concept[].display
Pigmentation anomalies of sun-exposed skin

# concept[].display
Increased anti-alpha-gal IgE antibody level

# concept[].display
Increased anti-house dust mite IgE antibody level

# concept[].display
Increased anti-animal dander IgE antibody level

# concept[].display
Increased anti-plant product IgE antibody level

# concept[].display
Increased anti-insect IgE antibody level

# concept[].display
Oligoclonal elevation of circulating IgG

# concept[].display
Ultra-low vision with no light perception

# concept[].display
Ultra-low vision with retained light perception

# concept[].display
Ultra-low vision with retained light projection

# concept[].display
Ultra-low vision with retained motion projection

# concept[].display
Increased anti-gluten IgE antibody level

# concept[].display
Increased anti-food allergen IgE antibody level

# concept[].display
Osseous atresia of the external auditory canal

# concept[].display
Increased anti-bacteria IgE antibody level

# concept[].display
Elevated urinary N-acetylaspartic acid level

# concept[].display
establishment of protein localization to extracellular region

# concept[].display
Hypoplasia of mandible relative to maxilla

# concept[].display
Morphological abnormality of the saccule

# concept[].display
CSF anti-NMDA receptor antibody positivity

# concept[].display
Abnormality of levator veli palatini muscle

# concept[].display
Abnormal levator palpebrae superioris morphology

# concept[].display
Abnormal circulating aspartate family amino acid concentration

# concept[].display
Abnormality of intrinsic muscle of tongue

# concept[].display
Abnormal internal carotid artery morphology

# concept[].display
Increased circulating immature neutrophil count

# concept[].display
Increased circulating creatine kinase BB isoform

# concept[].display
Increased circulating creatine kinase MB isoform

# concept[].display
Abnormality of frontal process of maxilla

# concept[].display
Abnormality of cartilage of nasal septum

# concept[].display
Abnormality of anterior ethmoidal artery

# concept[].display
1st arch mandibular mesenchyme from neural crest

# concept[].display
EEG with localized low amplitude activity

# concept[].display
Lymphocytic infiltration of the colorectal mucosa

# concept[].display
Increased urinary renal tubular epithelial cell count

# concept[].display
Abnormality of depressor labii inferioris

# concept[].display
Sphingomyelinase is activated by the NGF:p75NTR complex

# concept[].display
EEG with spike-wave complexes (2.5-3.5 Hz)

# concept[].display
EEG with persistent abnormal rhythmic activity

# concept[].display
Abnormal circulating free T3 concentration

# concept[].display
Chronic active Epstein-Barr virus infection

# concept[].display
Abnormal inner ear epithelium morphology

# concept[].display
Acroosteolysis of distal phalanges (feet)

# concept[].display
Abnormality of the seventh cranial nerve

# concept[].display
Abnormality of the twelfth cranial nerve

# concept[].display
Abnormality of the eleventh cranial nerve

# concept[].display
negative regulation of growth hormone secretion

# concept[].display
positive regulation of growth hormone secretion

# concept[].display
negative regulation of homocysteine metabolic process

# concept[].display
Increased number of elastic fibers in the dermis

# concept[].display
Clumping of elastic fibers in the dermis

# concept[].display
Abnormal CSF aromatic amino acid concentration

# concept[].display
Bullet-shaped distal phalanx of the 5th finger

# concept[].display
Osteolytic defects of the distal phalanx of the 5th finger

# concept[].display
Distal/middle symphalangism of 5th finger

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 4th finger

# concept[].display
positive regulation of muscle tissue development

# concept[].display
negative regulation of muscle tissue development

# concept[].display
positive regulation of mitochondrial DNA metabolic process

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 5th toe

# concept[].display
negative regulation of mitochondrial DNA metabolic process

# concept[].display
regulation of mitochondrial DNA metabolic process

# concept[].display
Enlarged epiphysis of the distal phalanx of the 4th finger

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 4th finger

# concept[].display
Conception by assisted reproductive technology

# concept[].display
subdivision of organism along appendicular axis

# concept[].display
squamous part of temporal bone primordium

# concept[].display
Bilateral single transverse palmar creases

# concept[].display
Aplasia/Hypoplastia of the eccrine sweat glands

# concept[].display
Aplasia cutis congenita over posterior parietal area

# concept[].display
Aplasia cutis congenita on trunk or limbs

# concept[].display
Skin fragility with non-scarring blistering

# concept[].display
sphenoid lesser wing pre-cartilage condensation

# concept[].display
Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells

# concept[].display
Increased uridine diphosphate glucose-4-epimerase activity in red blood cells

# concept[].display
Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells

# concept[].display
Decreased uridine diphosphate glucose-4-epimerase activity in plasma

# concept[].display
Telangiectases in sun-exposed and nonexposed skin

# concept[].display
Increased glucose-6-phosphate dehydrogenase level in red blood cells

# concept[].display
Decreased glucose-6-phosphate dehydrogenase level in red blood cells

# concept[].display
Decreased glucose-6-phosphate dehydrogenase level in tissue

# concept[].display
Abnormal glucose-6-phosphate dehydrogenase level in tissue

# concept[].display
methylglyoxal catabolic process to lactate

# concept[].display
Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

# concept[].display
vascular endothelial growth factor receptor 2

# concept[].display
Confetti hypopigmentation pattern of lower leg skin

# concept[].display
Abnormal subcutaneous fat tissue distribution

# concept[].display
Increased glucose-6-phosphate dehydrogenase level in blood

# concept[].display
Abnormal glucose-6-phosphate dehydrogenase level in blood

# concept[].display
Palmoplantar keratosis with erythema and scale

# concept[].display
Absent pigmentation of the ventral chest

# concept[].display
Buried teeth encased in mucopolysaccharide

# concept[].display
Abnormal morphology of the shoulder musculature

# concept[].display
Abnormal morphology of the chest musculature

# concept[].display
Aplasia of the proximal phalanx of the 4th finger

# concept[].display
Patchy sclerosis of proximal phalanx of finger

# concept[].display
Aplasia cutis congenita of midline scalp vertex

# concept[].display
Increased level of N-acetylneuraminic acid in urine

# concept[].display
Increased level of myristic acid in serum

# concept[].display
Increased level of methylsuccinic acid in urine

# concept[].display
Eosinophilic microabscess formation in the esophagus

# concept[].display
Eosinophilic infiltration of the esophagus

# concept[].display
Yellow subcutaneous tissue covered by thin, scaly skin

# concept[].display
Eosinophilic infiltration in the stomach mucosa

# concept[].display
Decreased low-density lipoprotein particle size

# concept[].display
Mottled pigmentation of photoexposed areas

# concept[].display
Cellular hypersensitivity to mitomycin C

# concept[].display
Anomalous hepatic venous drainage into the left atrium

# concept[].display
Streaks of hyperkeratosis along each finger onto the palm

# concept[].display
positive regulation of peptide secretion

# concept[].display
receptor-type tyrosine-protein phosphatase C isoform CD45R, signal peptide removed form

# concept[].display
distal carpal bone 1 endochondral element

# concept[].display
Congenital fibrosis of extraocular muscles

# concept[].display
distal tarsal bone 1 endochondral element

# concept[].display
distal tarsal bone pre-cartilage condensation

# concept[].display
Transient decreased circulating total IgG

# concept[].display
Decreased proportion of non-class-switched memory B cells

# concept[].display
Delayed closure of the anterior fontanelle

# concept[].display
Aplasia/Hypoplasia of the musculature of the pelvis

# concept[].designation[].value
mast/stem cell growth factor receptor Kit, signal peptide removed form (human)

# concept[].display
Abnormality of the reflex of the tensor tympani muscle

# concept[].display
Abnormal morphology of the pelvis musculature

# concept[].display
Aplasia/Hypoplasia involving the musculature of the upper arm

# concept[].display
Aplasia/Hypoplasia involving the musculature of the upper limbs

# concept[].display
Amyotrophy involving the shoulder musculature

# concept[].display
Abnormal Vistech contrast sensitivity test

# concept[].display
Autosomal dominant contiguous gene syndrome

# concept[].display
Abnormality of the musculature of the upper limbs

# concept[].display
Abnormality of the hip-girdle musculature

# concept[].display
Autosomal dominant somatic cell mutation

# concept[].display
Abnormality of the musculature of the thigh

# concept[].display
positive regulation of bone mineralization involved in bone maturation

# concept[].display
negative regulation of bone mineralization involved in bone maturation

# concept[].display
regulation of bone mineralization involved in bone maturation

# concept[].display
Advanced pneumatization of the mastoid process

# concept[].display
Abnormality of the musculature of the lower limbs

# concept[].display
Abnormality of the shoulder girdle musculature

# concept[].display
synaptic transmission involved in micturition

# concept[].display
Abnormality of the musculature of the hand

# concept[].display
inferior palpebral branch of infra-orbital nerve

# concept[].display
Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate

# concept[].display
negative regulation of protein glycosylation

# concept[].display
positive regulation of protein glycosylation

# concept[].display
regulation of execution phase of apoptosis

# concept[].display
extracellular regulation of signal transduction

# concept[].display
urokinase plasminogen activator surface receptor (human)

# concept[].display
Prolonged bleeding after dental extraction

# concept[].display
manual digit metacarpus cartilage element

# concept[].display
pedal digit metatarsal cartilage element

# concept[].display
manual digit 5 phalanx cartilage element

# concept[].display
manual digit 4 phalanx cartilage element

# concept[].display
manual digit 3 phalanx cartilage element

# concept[].display
manual digit 2 phalanx cartilage element

# concept[].display
manual digit 1 phalanx cartilage element

# concept[].display
positive regulation of neutrophil mediated killing of bacterium

# concept[].display
positive regulation of neutrophil mediated killing of symbiont cell

# concept[].display
positive regulation of neutrophil mediated cytotoxicity

# concept[].display
positive regulation of response to external stimulus

# concept[].display
purine nucleoside diphosphate metabolic process

# concept[].display
regulation of vitamin A metabolic process

# concept[].display
regulation of response to nutrient levels

# concept[].display
positive regulation of platelet aggregation

# concept[].display
negative regulation of neutrophil mediated cytotoxicity

# concept[].display
regulation of neutrophil mediated killing of bacterium

# concept[].display
regulation of odontogenesis of dentin-containing tooth

# concept[].display
Discrete 2 to 5-mm hyper- and hypopigmented macules

# concept[].display
Linear arrays of macular hyperkeratoses in flexural areas

# concept[].display
regulation of neutrophil mediated killing of symbiont cell

# concept[].display
regulation of neutrophil mediated cytotoxicity

# concept[].display
neutrophil mediated killing of bacterium

# concept[].display
neutrophil mediated killing of symbiont cell

# concept[].display
Decreased sweating due to autonomic dysfunction

# concept[].display
vibrational conductance of sound to the inner ear

# concept[].display
negative regulation of programmed cell death

# concept[].display
positive regulation of apoptotic process

# concept[].display
Axillary and groin hyperpigmentation and hypopigmentation

# concept[].display
distal carpal bone 4 pre-cartilage condensation

# concept[].display
Increased groin pigmentation with raindrop depigmentation

# concept[].display
distal carpal bone 2 pre-cartilage condensation

# concept[].display
distal carpal bone 2 endochondral element

# concept[].display
distal carpal bone 1 pre-cartilage condensation

# concept[].display
proximal tarsal bone pre-cartilage condensation

# concept[].display
Orofacial action-specific dystonia induced by speech

# concept[].display
distal epiphysis of distal phalanx of pedal digit

# concept[].display
Increased level of propylene glycol in blood

# concept[].display
Increased level of L-glutamic acid in blood

# concept[].display
Increased level of hippuric acid in urine

# concept[].display
Increased level of hippuric acid in blood

# concept[].display
Mottled pigmentation of the trunk and proximal extremities

# concept[].display
Alternating radiolucent and radiodense metaphyseal lines

# concept[].display
Decreased level of 1,5 anhydroglucitol in serum

# concept[].display
distal epiphysis of distal phalanx of manual digit 5

# concept[].display
Increased circulating surfactant protein level

# concept[].display
Left ventricular outflow tract obstruction

# concept[].designation[].value
vascular endothelial growth factor receptor 2, signal peptide removed form (human)

# concept[].display
Neonatal wrinkled skin of hands and feet

# concept[].display
Aortic smooth muscle cell disorganization

# concept[].display
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (mouse)

# concept[].display
manual digit 5 metacarpus endochondral element

# concept[].display
manual digit 4 metacarpus endochondral element

# concept[].display
pedal digit 4 metatarsal endochondral element

# concept[].display
Abnormal circulating free fatty acid concentration

# concept[].display
Abnormal distribution of cell junction proteins in buccal mucosal cells

# concept[].display
Abnormal male urethral meatus morphology

# concept[].display
pedal digit 1 metatarsal endochondral element

# concept[].display
pedal digit metatarsal endochondral element

# concept[].display
pedal digit 5 phalanx endochondral element

# concept[].display
pedal digit 4 phalanx endochondral element

# concept[].display
pedal digit 3 phalanx endochondral element

# concept[].display
pedal digit 2 phalanx endochondral element

# concept[].display
pedal digit 1 phalanx endochondral element

# concept[].display
pedal digit phalanx endochondral element

# concept[].display
Abnormality of the pancreatic islet cells

# concept[].display
manual digit 3 phalanx endochondral element

# concept[].display
manual digit 1 phalanx endochondral element

# concept[].display
Mild malformation of cortical development

# concept[].display
proximal epiphysis of phalanx of manual digit 2

# concept[].display
proximal epiphysis of phalanx of manual digit 3

# concept[].display
Abnormal response to insulin tolerance test

# concept[].display
Abnormal response to corticotropin releasing hormone stimulation test

# concept[].display
Low alkaline phosphatase of hepatic origin

# concept[].display
Low alkaline phosphatase of renal origin

# concept[].display
Abnormal timing of dark-adapted dim flash electroretinogram

# concept[].display
Excessive insulin response to glucagon test

# concept[].display
Abnormality of the curvature of the vertebral column

# concept[].designation[].value
insulin, signal peptide removed form (human)

# concept[].designation[].value
interleukin-7 receptor subunit alpha, signal peptide removed form (human)

# concept[].designation[].value
cobalamin binding intrinsic factor, signal peptide removed form (human)

# concept[].designation[].value
interleukin-3 receptor subunit alpha, signal peptide removed form (human)

# concept[].display
leukocyte migration involved in inflammatory response

# concept[].display
Patchy variation in bone mineral density

# concept[].display
Patchy reduction of bone mineral density

# concept[].display
negative regulation of neuromuscular synaptic transmission

# concept[].display
Aplasia of the distal phalanges of the toes

# concept[].display
Elevated alkaline phosphatase of bone origin

# concept[].display
Elevated alkaline phosphatase of hepatic origin

# concept[].display
transmembrane emp24 domain-containing protein 1, signal peptide removed form

# concept[].display
Abnormal morphology of the cortex of the humerus

# concept[].display
environment associated with a plant part or small plant

# concept[].display
environment associated with an animal part or small animal

# concept[].display
propionyl-CoA + CO2 + ATP <=> D-methylmalonyl-CoA + ADP + orthophosphate

# concept[].display
EEG with irregular generalized spike and wave complexes

# concept[].display
Triangular shaped proximal phalanx of the 4th finger

# concept[].display
Abnormality of the proximal ulnar epiphysis

# concept[].display
auditory hillocks, pharyngeal arch 1 derived

# concept[].display
positive regulation of cytokine production involved in inflammatory response

# concept[].display
negative regulation of cytokine production involved in inflammatory response

# concept[].display
regulation of cytokine production involved in inflammatory response

# concept[].display
line connecting laterally paired nipples

# concept[].display
environmental system determined by an organism

# concept[].designation[].value
GPX7,8 catalyze peroxidation of P4HB (PDI)

# concept[].designation[].value
DIT and MIT combine to form triiodothyronine

# concept[].designation[].value
Collagen type IV sulfilimine cross-linking by peroxidasin

# concept[].designation[].value
Myeloperoxidase (MPO) produces hypochlorous acid (HOCl)

# concept[].designation[].value
Membrane-bound myeloperoxidase (MPO) produces hypochlorous acid (HOCl)

# concept[].designation[].value
Myeloperoxidase (MPO) catalyzes oxidation of nitrite to nitrogen dioxide

# concept[].display
Aplasia/Hypoplasia involving the central nervous system

# concept[].display
CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor

# concept[].display
Absent microvilli on the surface of peripheral blood lymphocytes

# concept[].display
branched-chain amino acid metabolic process

# concept[].display
Abnormal delayed hypersensitivity skin test

# concept[].display
aromatic amino acid family metabolic process

# concept[].display
alkaline phosphatase, placental type, signal peptide removed form

# concept[].display
alkaline phosphatase, tissue-nonspecific isozyme, signal peptide removed form

# concept[].display
intestinal alkaline phosphatase, signal peptide removed form

# concept[].display
serine family amino acid metabolic process

# concept[].display
manual digit phalanx pre-cartilage condensation

# concept[].display
pedal digit phalanx pre-cartilage condensation

# concept[].display
serum albumin, signal peptide removed form

# concept[].display
manual digit 5 phalanx pre-cartilage condensation

# concept[].display
manual digit 4 phalanx pre-cartilage condensation

# concept[].display
manual digit 3 phalanx pre-cartilage condensation

# concept[].display
manual digit 2 phalanx pre-cartilage condensation

# concept[].display
manual digit 1 phalanx pre-cartilage condensation

# concept[].display
manual digit 5 metacarpus cartilage element

# concept[].display
manual digit 1 metacarpus cartilage element

# concept[].display
manual digit 5 metacarpus pre-cartilage condensation

# concept[].display
manual digit 4 metacarpus pre-cartilage condensation

# concept[].display
manual digit 3 metacarpus pre-cartilage condensation

# concept[].display
manual digit 2 metacarpus pre-cartilage condensation

# concept[].display
manual digit 1 metacarpus pre-cartilage condensation

# concept[].display
Leydig cell insensitivity to gonadotropin

# concept[].display
Decreased activity of the pyruvate dehydrogenase complex

# concept[].display
alpha-fetoprotein, signal peptide removed form

# concept[].display
pedal digit 3 metatarsal cartilage element

# concept[].display
pedal digit 2 metatarsal cartilage element

# concept[].display
pedal digit 1 metatarsal cartilage element

# concept[].display
pedal digit 4 metatarsal pre-cartilage condensation

# concept[].display
pedal digit 3 metatarsal pre-cartilage condensation

# concept[].display
pedal digit 2 metatarsal pre-cartilage condensation

# concept[].display
pedal digit 1 metatarsal pre-cartilage condensation

# concept[].display
organic hydroxy compound biosynthetic process

# concept[].display
organic hydroxy compound metabolic process

# concept[].display
Abnormality of the posterior cranial fossa

# concept[].display
vascular endothelial growth factor receptor 2 (zebrafish)

# concept[].display
Abnormality of somatosensory evoked potentials

# concept[].display
Aplasia/Hypoplasia of the corpus callosum

# concept[].display
activated CD8-positive, alpha-beta T cell

# concept[].display
positive regulation of myeloid dendritic cell activation

# concept[].display
negative regulation of myeloid dendritic cell activation

# concept[].display
regulation of myeloid dendritic cell activation

# concept[].display
naive thymus-derived CD8-positive, alpha-beta T cell

# concept[].display
Atrophy/Degeneration affecting the central nervous system

# concept[].display
Aplasia/Hypoplasia of the pyramidal tract

# concept[].display
orotidine 5'-monophosphate => uridine 5'-monophosphate + CO2

# concept[].display
Atrophy/Degeneration involving the spinal cord

# concept[].display
Abnormal morphology of the limbic system

# concept[].display
Diffuse swelling of cerebral white matter

# concept[].display
negative regulation of epithelial cell differentiation

# concept[].display
regulation of epithelial cell differentiation

# concept[].display
somatic diversification of immune receptors via germline recombination within a single locus

# concept[].display
Bicuspid aortic valve with right-noncoronary cusp fusion

# concept[].display
Mixed demyelinating and axonal polyneuropathy

# concept[].display
Impaired annexin V binding to platelet phosphatidylserine

# concept[].display
Starry sky appearance on hepatic sonography

# concept[].display
skeletal muscle tissue of orbicularis oculi

# concept[].display
Abnormality of the distal humeral epiphysis

# concept[].display
Abnormality of the proximal humeral epiphysis

# concept[].display
Abnormality of the distal radial epiphysis

# concept[].display
Abnormality of the proximal radial epiphysis

# concept[].display
Abnormality of the distal fibular epiphysis

# concept[].display
Abnormality of the proximal fibular epiphysis

# concept[].display
Abnormality of the distal tibial epiphysis

# concept[].display
Abnormality of the proximal tibial epiphysis

# concept[].display
Abnormality of the distal femoral epiphysis

# concept[].display
Decreased activity of mitochondrial respiratory chain

# concept[].display
regulation of plasma membrane organization

# concept[].display
Abnormality of the epiphysis of the femoral head

# concept[].display
Weakness due to upper motor neuron dysfunction

# concept[].display
Decreased level of tissue plasminogen activator

# concept[].display
subdivision of spinal cord ventral column

# concept[].display
intervertebral disk of fifth cervical vertebra

# concept[].display
intervertebral disk of fourth cervical vertebra

# concept[].display
intervertebral disk of third cervical vertebra

# concept[].display
Beta-galactosidase can also hydrolyse globosides to form cerebrosides

# concept[].designation[].value
Defective GLB1 does not hydrolyse a glycosaminoglycan

# concept[].designation[].value
Beta-galactosidase hydrolyses GM1 to GM2

# concept[].designation[].value
Defective GLB1 does not hydrolyse linker chain(2)

# concept[].designation[].value
Keratan sulfate is cleaved from its proteoglycan by an unknown galactosidase

# concept[].display
positive regulation of multi-organism process

# concept[].display
central nervous system white matter layer

# concept[].display
central nervous system gray matter layer

# concept[].display
intervertebral disk of thoracic vertebra

# concept[].display
intervertebral disk of cervical vertebra

# concept[].display
Digestion of branched starch (amylopectin) by extracellular amylase

# concept[].designation[].value
Digestion of linear starch (amylose) by extracellular amylase

# concept[].display
Pointed proximal second through fifth metacarpals

# concept[].display
sensory perception of mechanical stimulus

# concept[].display
Interphalangeal joint contracture of finger

# concept[].display
negative regulation of developmental process

# concept[].display
positive regulation by host of symbiont phagocytosis

# concept[].display
cilium movement involved in cell motility

# concept[].display
regulation of small molecule metabolic process

# concept[].display
regulation of mitotic sister chromatid segregation

# concept[].display
mesenchyme derived from trunk neural crest

# concept[].display
mesenchyme derived from head neural crest

# concept[].display
regulation of bile acid biosynthetic process

# concept[].display
Defective PAH does not hydroxylate L-Phe to L-Tyr

# concept[].designation[].value
PAH tetramer hydroxylates L-Phe to L-Tyr

# concept[].display
Apneic episodes precipitated by illness, fatigue, stress

# concept[].display
fatty acid derivative biosynthetic process

# concept[].display
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

# concept[].display
ciliated columnar cell of tracheobronchial tree

# concept[].display
G protein-coupled receptor signaling pathway involved in social behavior

# concept[].display
glutamine family amino acid metabolic process

# concept[].display
aspartate family amino acid metabolic process

# concept[].display
positive regulation of hematopoietic progenitor cell differentiation

# concept[].display
negative regulation of hematopoietic progenitor cell differentiation

# concept[].display
regulation of hematopoietic progenitor cell differentiation

# concept[].display
myeloid lineage restricted progenitor cell

# concept[].display
lymphoid lineage restricted progenitor cell

# concept[].display
Dysfunction of lateral corticospinal tracts

# concept[].display
Chaotic rapid conjugate ocular movements

# concept[].display
1,3-bisphospho-D-glycerate + ADP <=> 3-phospho-D-glycerate + ADP

# concept[].designation[].value
ATP + 3-Phospho-D-glycerate <=> ADP + 1,3-bisphospho-D-glycerate

# concept[].display
Facial palsy secondary to cranial hyperostosis

# concept[].display
Large cafe-au-lait macules with irregular margins

# concept[].display
Severe demyelination of the white matter

# concept[].display
Decreased number of small peripheral myelinated nerve fibers

# concept[].display
Spinocerebellar tract disease in lower limbs

# concept[].display
Decreased distal sensory nerve action potential

# concept[].display
Abnormal radioactive iodine uptake test result

# concept[].display
positive regulation of epithelial cell differentiation

# concept[].display
skeletal muscle tissue of pectoralis major

# concept[].display
developmental process involved in reproduction

# concept[].display
Generalized hypotonia due to defect at the neuromuscular junction

# concept[].display
Decreased CD25 upregulation upon TCR activation

# concept[].display
Aplasia/Hypoplasia of the palmar creases

# concept[].display
Abnormality of prenatal development or birth

# concept[].display
Abnormalities of placenta or umbilical cord

# concept[].display
Ulnar deviation of the hand or of fingers of the hand

# concept[].display
T-cell surface glycoprotein CD8 beta chain isoform 1 (human)

# concept[].display
Failure to thrive secondary to recurrent infections

# concept[].display
modulation of chemical synaptic transmission

# concept[].designation[].value
low affinity immunoglobulin gamma Fc region receptor II-b, signal peptide removed form (human)

# concept[].designation[].value
DMPhOH is hydroxylated to MDMQ10H2 by DMPhOH monooxygenase

# concept[].designation[].value
Vinyl chloride is oxidized to 2-Chloroethylene oxide

# concept[].designation[].value
Arachidonic acid is hydroxylated to 19-HETE by CYP(2)

# concept[].designation[].value
CYP2C18 initiates bioactivation of phenytoin by 4-hydroxylation

# concept[].designation[].value
CYP1, CYP2 hydroxylate (N)PD1 to 22-OH-(N)PD1

# concept[].designation[].value
DHI and DHICA polymerise forming eumelanin

# concept[].designation[].value
Arachidonic acid is epoxidated to 8,9/11,12/14,15-EET by CYP(5)

# concept[].designation[].value
Defective CYP4F22 does not 20-hydroxylate TrXA3

# concept[].designation[].value
Dehalogenation of the poly-halogenated hydrocarbon Halothane to form the acylhalide Trifluoroacetlychloride and  hydrogen bromide

# concept[].designation[].value
Dehalogenation of carbon tetrachloride to form a free radical

# concept[].designation[].value
Arachidonic acid is hydroxylated to 20-HETE by CYP(3)

# concept[].designation[].value
Defective CYP2U1 does not omega-hydroxylate ARA

# concept[].designation[].value
Defective CYP1B1 does not 4-hydroxylate EST17b

# concept[].designation[].value
Arachidonic acid is epoxidated to 5,6-EET by CYP(4)

# concept[].designation[].value
CYP1A2,3A4,3A5,2A13 oxidise AFB1 to AFXBO

# concept[].designation[].value
Tyrosinase oxidises tyrosine to dopaquinone

# concept[].designation[].value
Arachidonic acid is hydroxylated to 16/17/18-HETE by CYP(1)

# concept[].designation[].value
Ethylene is oxidized to Ethylene oxide by CYP1A1

# concept[].designation[].value
Cyclophosphamide is 4-hydroxylated by CYP2B6

# concept[].display
Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

# concept[].display
Abnormal branching pattern of the aortic arch

# concept[].display
Abnormality of the greater sacrosciatic notch

# concept[].display
Fc-epsilon RIalpha-low mast cell progenitor

# concept[].display
Aplasia of the proximal phalanx of the 2nd toe

# concept[].display
Aplasia of the middle phalanx of the 2nd toe

# concept[].display
Left aortic arch with retroesophageal right subclavian artery

# concept[].display
Left aortic arch with right descending aorta and right ductus arteriosus

# concept[].display
Right aortic arch with left descending aorta and left ductus arteriosus

# concept[].display
Complete duplication of the phalanges of the 2nd toe

# concept[].display
Partial duplication of phalanx of the 2nd toe

# concept[].display
Partial duplication of the middle phalanx of the 2nd toe

# concept[].display
Complete duplication of the middle phalanx of the 2nd toe

# concept[].display
Partial duplication of the distal phalanx of the 2nd toe

# concept[].display
Complete duplication of the distal phalanx of the 2nd toe

# concept[].display
Partial duplication of the proximal phalanx of the 2nd toe

# concept[].display
Complete duplication of the proximal phalanx of the 2nd toe

# concept[].display
Duplication of the distal phalanx of the 2nd toe

# concept[].display
Symphalangism affecting the distal phalanx of the 2nd toe

# concept[].display
Patchy sclerosis of the distal phalanx of the 2nd toe

# concept[].display
Osteolytic defects of the distal phalanx of the 2nd toe

# concept[].display
Bullet-shaped distal phalanx of the 2nd toe

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe

# concept[].display
Triangular shaped middle phalanx of the 2nd toe

# concept[].display
Symphalangism affecting the middle phalanx of the 2nd toe

# concept[].display
Patchy sclerosis of the middle phalanx of the 2nd toe

# concept[].display
Osteolytic defects of the middle phalanx of the 2nd toe

# concept[].display
Bullet-shaped middle phalanx of the 2nd toe

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe

# concept[].display
Duplication of the proximal phalanx of the 2nd toe

# concept[].display
Triangular shaped proximal phalanx of the 2nd toe

# concept[].display
Symphalangism affecting the proximal phalanx of the 2nd toe

# concept[].display
central part of body of bony vertebral centrum

# concept[].display
Defective IDS does not hydrolyse Heparan sulfate chain(5)

# concept[].designation[].value
IDS hydrolyses dermatan sulfate (Chebi:63517 chain)

# concept[].designation[].value
Defective IDS does not hydrolyse dermatan sulfate (Chebi:63517 chain)

# concept[].display
regulation of purine nucleotide metabolic process

# concept[].display
negative regulation of purine nucleotide metabolic process

# concept[].display
positive regulation of purine nucleotide metabolic process

# concept[].display
Recurrent upper respiratory tract infections

# concept[].display
Recurrent lower respiratory tract infections

# concept[].display
positive regulation of cysteine metabolic process

# concept[].display
regulation of cysteine metabolic process

# concept[].display
CD8-positive, alpha-beta regulatory T cell

# concept[].display
CD4-positive, CD25-positive, alpha-beta regulatory T cell

# concept[].display
lymphocyte antigen 6C2, signal peptide removed form

# concept[].display
lymphocyte antigen 6A-2/6E-1, signal peptide removed form

# concept[].display
negative regulation of chemokine secretion

# concept[].display
Triangular shaped phalanges of the 3rd finger

# concept[].display
Palpebral fissure narrowing on adduction

# concept[].display
positive regulation of tetrapyrrole biosynthetic process

# concept[].display
negative regulation of tetrapyrrole biosynthetic process

# concept[].display
regulation of tetrapyrrole biosynthetic process

# concept[].display
positive regulation of T cell activation

# concept[].display
Respiratory insufficiency due to muscle weakness

# concept[].display
Absence of bactericidal oxidative respiratory burst in phagocytes

# concept[].display
pharyngeal arch mesenchyme from neural crest

# concept[].display
Generalized tonic-clonic seizures on awakening

# concept[].display
6th arch mesenchyme from head mesenchyme

# concept[].display
4th arch mesenchyme from head mesenchyme

# concept[].display
3rd arch mesenchyme from head mesenchyme

# concept[].display
1st arch mesenchyme from head mesenchyme

# concept[].display
Focal T2 hyperintense basal ganglia lesion

# concept[].display
regulation of inflammatory response to wounding

# concept[].display
mandibular process mesenchyme from head mesenchyme

# concept[].display
mandibular process mesenchyme from neural crest

# concept[].display
maxillary process mesenchyme from head mesenchyme

# concept[].display
maxillary process mesenchyme from neural crest

# concept[].display
positive regulation of tetrapyrrole metabolic process

# concept[].display
negative regulation of tetrapyrrole metabolic process

# concept[].display
regulation of tetrapyrrole metabolic process

# concept[].display
Diffuse demyelination of the cerebral white matter

# concept[].display
structure with developmental contribution from neural crest

# concept[].display
Osteolysis involving bones of the upper limbs

# concept[].display
cell surface receptor signaling pathway involved in heart development

# concept[].display
2nd arch mesenchyme from head mesenchyme

# concept[].display
positive regulation of adaptive immune response

# concept[].display
regulation of isoprenoid metabolic process

# concept[].display
Perivascular myocardial immune cell infiltration

# concept[].display
negative regulation of bile acid biosynthetic process

# concept[].display
Hypointensity of cerebral white matter on MRI

# concept[].display
Early ossification of capital femoral epiphyses

# concept[].display
Reduced growth-hormone binding protein level

# concept[].display
Osteolytic defects of the proximal phalanx of the 2nd toe

# concept[].display
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe

# concept[].display
Abnormality of the middle phalanx of the 5th toe

# concept[].display
Abnormality of the distal phalanx of the 5th toe

# concept[].display
Duplication of the phalanges of the 5th toe

# concept[].display
Triangular shaped phalanges of the 5th toe

# concept[].display
Symphalangism affecting the phalanges of the 5th toe

# concept[].display
Osteolytic defects of the phalanges of the 5th toe

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 5th toe

# concept[].display
Abnormality of the middle phalanx of the 4th toe

# concept[].display
Self-mutilation of tongue and lips due to involuntary movements

# concept[].display
Triangular shaped phalanges of the 4th toe

# concept[].display
Symphalangism affecting the phalanges of the 4th toe

# concept[].display
Osteolytic defects of the phalanges of the 4th toe

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 4th toe

# concept[].display
Abnormality of the proximal phalanx of the 3rd toe

# concept[].display
Abnormality of the distal phalanx of the 3rd toe

# concept[].display
Triangular shaped phalanges of the 3rd toe

# concept[].display
Symphalangism affecting the phalanges of the 3rd toe

# concept[].display
Osteolytic defects of the phalanges of the 3rd toe

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 3rd toe

# concept[].display
Abnormality of the proximal phalanx of the 2nd toe

# concept[].display
Abnormality of the middle phalanx of the 2nd toe

# concept[].display
Abnormality of the distal phalanx of the 2nd toe

# concept[].display
Duplication of the phalanges of the 2nd toe

# concept[].display
Triangular shaped phalanges of the 2nd toe

# concept[].display
Symphalangism affecting the phalanges of the 2nd toe

# concept[].display
Osteolytic defects of the phalanges of the 2nd toe

# concept[].display
negative regulation of neutrophil mediated killing of symbiont cell

# concept[].display
Female external genitalia in individual with 46,XY karyotype

# concept[].display
negative regulation of natural killer cell mediated immunity

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 2nd toe

# concept[].display
Abnormality of the phalanges of the 5th toe

# concept[].display
Abnormality of the epiphyses of the 5th toe

# concept[].display
Anomalous origin of right pulmonary artery from ascending aorta

# concept[].display
Gonadal dysgenesis with female appearance, male

# concept[].display
Confluent hyperintensity of cerebral white matter on MRI

# concept[].display
Abnormality of the phalanges of the 4th toe

# concept[].display
Abnormality of the epiphyses of the 4th toe

# concept[].display
Abnormality of the phalanges of the 3rd toe

# concept[].display
Impaired cortisol response to insulin stimulation test

# concept[].display
Abnormality of the epiphyses of the 3rd toe

# concept[].display
Abnormality of the epiphyses of the 2nd toe

# concept[].display
negative regulation of embryonic development

# concept[].display
Aplasia/Hypoplasia of the abdominal wall musculature

# concept[].display
positive regulation of striated muscle contraction

# concept[].display
negative regulation of striated muscle contraction

# concept[].display
positive regulation of pyrimidine nucleobase metabolic process

# concept[].display
negative regulation of pyrimidine nucleobase metabolic process

# concept[].display
positive regulation of purine nucleobase metabolic process

# concept[].display
negative regulation of purine nucleobase metabolic process

# concept[].display
positive regulation of nucleotide metabolic process

# concept[].display
negative regulation of nucleotide metabolic process

# concept[].display
Complete heart block with narrow QRS complexes

# concept[].display
Accumulation of melanosomes in melanocytes

# concept[].display
Absence of intermediate von Willibrand factor multimers

# concept[].display
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

# concept[].display
Impaired ability to form peer relationships

# concept[].display
Inflexible adherence to routines or rituals

# concept[].display
positive regulation of steroid metabolic process

# concept[].display
Elevated circulating luteinizing hormone level

# concept[].display
Sclerosis of the middle phalanx of the 4th finger

# concept[].display
negative regulation of steroid metabolic process

# concept[].display
positive regulation of circadian sleep/wake cycle, sleep

# concept[].display
positive regulation of phosphate metabolic process

# concept[].display
negative regulation of phosphate metabolic process

# concept[].display
positive regulation of nucleobase-containing compound metabolic process

# concept[].display
negative regulation of nucleobase-containing compound metabolic process

# concept[].display
positive regulation of muscle contraction

# concept[].display
negative regulation of muscle contraction

# concept[].display
positive regulation of mitotic cell cycle

# concept[].display
negative regulation of mitotic cell cycle

# concept[].display
Unilateral hypoplasia of pectoralis major muscle

# concept[].display
Nodular regenerative hyperplasia of liver

# concept[].display
positive regulation of fatty acid metabolic process

# concept[].display
negative regulation of fatty acid metabolic process

# concept[].display
Abnormal peripheral nervous system morphology

# concept[].display
positive regulation of carbohydrate metabolic process

# concept[].display
negative regulation of carbohydrate metabolic process

# concept[].display
positive regulation of DNA recombination

# concept[].display
negative regulation of DNA recombination

# concept[].display
organic cyclic compound metabolic process

# concept[].display
Abnormality of the superior cerebellar peduncle

# concept[].display
Abnormality of pelvic girdle bone morphology

# concept[].display
Arteriovenous fistulas of celiac and mesenteric vessels

# concept[].display
proximal interphalangeal joint of little finger

# concept[].display
positive regulation of translational elongation

# concept[].display
negative regulation of translational elongation

# concept[].display
low affinity immunoglobulin gamma Fc region receptor III (mouse)

# concept[].display
Hypersegmentation of proximal phalanx of third finger

# concept[].display
Decreased activity of mitochondrial ATP synthase complex

# concept[].display
Decreased activity of mitochondrial complex III

# concept[].display
Decreased activity of mitochondrial complex I

# concept[].display
Abnormal activity of mitochondrial respiratory chain

# concept[].display
negative regulation of vasculature development

# concept[].display
Right aortic arch with mirror image branching

# concept[].display
Venous varicosities of celiac and mesenteric vessels

# concept[].display
urokinase plasminogen activator surface receptor, signal peptide removed form

# concept[].display
CD27 molecule, signal peptide removed form

# concept[].display
mesenchyme from rhombencephalic neural crest

# concept[].display
Paresis of extensor muscles of the big toe

# concept[].display
negative regulation of flagellated sperm motility

# concept[].display
regulation of flagellated sperm motility

# concept[].display
regulation of translation by machinery localization

# concept[].display
positive regulation of bile acid biosynthetic process

# concept[].display
Decreased amplitude of sensory action potentials

# concept[].display
Aplasia of the inferior half of the cerebellar vermis

# concept[].display
Reduced reactive oxygen species production in neutrophils

# concept[].display
Multifocal cerebral white matter abnormalities

# concept[].display
Aplasia/Hypoplasia of the cerebellar vermis

# concept[].display
Elevated proportion of CD4+ effector memory T cells

# concept[].display
Reduced proportion of CD4+ effector memory T cells

# concept[].display
Abnormal proportion of CD4+ effector memory cells

# concept[].display
Reduced proportion of CD4+ central memory cells

# concept[].display
Elevated proportion of CD4+ central memory cells

# concept[].display
Abnormal proportion of CD4+ central memory cells

# concept[].display
Pallor of dorsal columns of the spinal cord

# concept[].display
Abnormal medial rectus muscle physiology

# concept[].display
Abnormal inferior rectus muscle physiology

# concept[].display
positive regulation of tolerance induction dependent upon immune response

# concept[].display
von Willebrand factor, signal peptide removed form

# concept[].display
Loss of Purkinje cells in the cerebellar vermis

# concept[].display
adhesion G protein-coupled receptor E1 (mouse)

# concept[].display
negative regulation of bone mineralization

# concept[].display
positive regulation of bone mineralization

# concept[].display
cellular nitrogen compound biosynthetic process

# concept[].display
Impaired histidine renal tubular absorption

# concept[].display
Stippling of the epiphyses of the proximal phalanges of the hand

# concept[].display
Small epiphyses of the proximal phalanges of the hand

# concept[].display
Pseudoepiphyses of the proximal phalanges of the hand

# concept[].display
Ivory epiphyses of the proximal phalanges of the hand

# concept[].display
Irregular epiphyses of the proximal phalanges of the hand

# concept[].display
Fragmentation of the epiphyses of the proximal phalanges of the hand

# concept[].display
Enlarged epiphyses of the proximal phalanges of the hand

# concept[].display
Cone-shaped epiphyses of the proximal phalanges of the hand

# concept[].display
Aplasia/Hypoplasia of the fallopian tube

# concept[].display
Uric acid urolithiasis independent of gout

# concept[].display
Bracket epiphyses of the proximal phalanges of the hand

# concept[].display
Absent epiphyses of the proximal phalanges of the hand

# concept[].display
Triangular epiphyses of the middle phalanges of the hand

# concept[].display
Stippling of the epiphyses of the middle phalanges of the hand

# concept[].display
Small epiphyses of the middle phalanges of the hand

# concept[].display
Pseudoepiphyses of the middle phalanges of the hand

# concept[].display
Ivory epiphyses of the middle phalanges of the hand

# concept[].display
Irregular epiphyses of the middle phalanges of the hand

# concept[].display
Fragmentation of the epiphyses of the middle phalanges of the hand

# concept[].display
Enlarged epiphyses of the middle phalanges of the hand

# concept[].display
Cone-shaped epiphyses of the middle phalanges of the hand

# concept[].display
Absent epiphyses of the middle phalanges of the hand

# concept[].display
Triangular epiphyses of the distal phalanges of the hand

# concept[].display
Stippling of the epiphyses of the distal phalanges of the hand

# concept[].display
Small epiphyses of the distal phalanges of the hand

# concept[].display
Pseudoepiphyses of the distal phalanges of the hand

# concept[].display
Ivory epiphyses of the distal phalanges of the hand

# concept[].display
Irregular epiphyses of the distal phalanges of the hand

# concept[].display
Fragmentation of the epiphyses of the distal phalanges of the hand

# concept[].display
Enlarged epiphyses of the distal phalanges of the hand

# concept[].display
Cone-shaped epiphyses of the distal phalanges of the hand

# concept[].display
Bracket epiphyses of the distal phalanges of the hand

# concept[].display
Absent epiphyses of the distal phalanges of the hand

# concept[].display
Abnormality of the epiphyses of the proximal phalanges of the hand

# concept[].display
Abnormality of the epiphyses of the middle phalanges of the hand

# concept[].display
Abnormality of the epiphyses of the distal phalanx of finger

# concept[].display
Aplasia of the proximal phalanges of the hand

# concept[].display
Aplasia of the middle phalanx of the hand

# concept[].display
Triangular epiphyses of the phalanges of the hand

# concept[].display
Epiphyseal stippling of finger phalanges

# concept[].display
Ivory epiphyses of the phalanges of the hand

# concept[].display
Irregular epiphyses of the phalanges of the hand

# concept[].display
Fragmentation of the epiphyses of the phalanges of the hand

# concept[].display
Enlarged epiphyses of the phalanges of the hand

# concept[].display
Cone-shaped epiphyses of the phalanges of the hand

# concept[].display
Bracket epiphyses of the phalanges of the hand

# concept[].display
Absent epiphyses of the phalanges of the hand

# concept[].display
Abnormality of the epiphysis of the 5th metacarpal

# concept[].display
Abnormality of the epiphysis of the 4th metacarpal

# concept[].display
Abnormality of the epiphysis of the 3rd metacarpal

# concept[].display
Abnormality of the epiphysis of the 2nd metacarpal

# concept[].display
Morphological abnormality of the middle ear

# concept[].display
Premature delivery because of cervical insufficiency or membrane fragility

# concept[].display
embryonic process involved in female pregnancy

# concept[].display
EC 6.4.* (C-C bond-forming ligase) inhibitor

# concept[].display
Contractures of the metatarsophalangeal joint of the hallux

# concept[].display
EC 6.3.* (C-N bond-forming ligase) inhibitor

# concept[].display
positive regulation of programmed cell death

# concept[].display
Symphalangism affecting the proximal phalanges of the toes

# concept[].display
Patchy sclerosis of proximal toe phalanx

# concept[].display
Osteolytic defect of the proximal toe phalanx

# concept[].display
Aplasia/hypoplasia of proximal toe phalanx

# concept[].display
Triangular shaped middle phalanges of the toes

# concept[].display
Symphalangism affecting the middle phalanges of the toes

# concept[].display
Anemia due to reduced life span of red cells

# concept[].display
Impaired thromboxane A2 agonist-induced platelet aggregation

# concept[].display
signal transducer CD24, signal peptide removed form

# concept[].display
Abnormal platelet membrane protein expression

# concept[].display
positive regulation of striated muscle tissue development

# concept[].display
negative regulation of striated muscle tissue development

# concept[].display
positive regulation of mitotic nuclear division

# concept[].display
natural killer cell receptor 2B4, signal peptide removed form

# concept[].display
Abnormal bone collagen fibril morphology

# concept[].display
negative regulation of mitotic nuclear division

# concept[].display
regulation of translation at synapse, modulating synaptic transmission

# concept[].display
positive regulation of lipid metabolic process

# concept[].display
CD14 molecule, signal peptide removed form

# concept[].display
positive regulation of isoprenoid metabolic process

# concept[].display
negative regulation of innate immune response

# concept[].display
positive regulation of heart contraction

# concept[].display
negative regulation of heart contraction

# concept[].display
positive regulation of glycolytic process

# concept[].display
negative regulation of glycolytic process

# concept[].display
interleukin-7 receptor subunit alpha, signal peptide removed form

# concept[].display
Parkinsonism with favorable response to dopaminergic medication

# concept[].display
Patchy demyelination of subcortical white matter

# concept[].display
high affinity immunoglobulin epsilon receptor subunit alpha, signal peptide removed form

# concept[].display
Thy-1 membrane glycoprotein, signal peptide removed form

# concept[].display
Insulin-resistant diabetes mellitus at puberty

# concept[].display
Abnormal inferior oblique muscle physiology

# concept[].display
CD7 molecule, signal peptide removed form

# concept[].display
distal epiphysis of distal phalanx of pedal digit 5

# concept[].display
5'-nucleotidase, signal peptide removed form

# concept[].display
positive regulation of heme biosynthetic process

# concept[].display
negative regulation of heme biosynthetic process

# concept[].display
low affinity immunoglobulin gamma Fc region receptor II, signal peptide removed form

# concept[].display
distal epiphysis of distal phalanx of manual digit

# concept[].display
Osteolytic defects of the middle phalanx of the 2nd finger

# concept[].display
distal epiphysis of distal phalanx of digit

# concept[].display
Periorbital ecchymosis with tarsal plate sparing

# concept[].display
B cell activation involved in immune response

# concept[].display
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

# concept[].display
Abnormal morphology of the chordae tendinae of the mitral valve

# concept[].display
Elongated chordae tendinae of the mitral valve

# concept[].display
Abnormal cutaneous collagen fibril morphology

# concept[].display
Anomalous origin of the circumflex artery from the right sinus of Valsalva

# concept[].display
Anomalous coronary artery arising from the opposite sinus

# concept[].display
microtubule cytoskeleton organization involved in mitosis

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Bracket epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Bicuspid aortic valve with left-noncoronary cusp fusion

# concept[].display
Decreased platelet thromboxane A2 receptor

# concept[].display
negative regulation of neutrophil mediated killing of bacterium

# concept[].display
Linear IgG deposits along the epidermal basement membrane zone

# concept[].display
Increased annexin V binding to platelet phosphatidylserine

# concept[].display
Slit-like opening of the exterior auditory meatus

# concept[].display
intrinsic component of mitochondrial membrane

# concept[].display
Osteolytic defects of the middle phalanges of the toes

# concept[].display
Triangular shaped distal phalanges of the toes

# concept[].display
Symphalangism affecting the distal phalanges of the toes

# concept[].display
Osteolytic defects of the distal phalanges of the toes

# concept[].display
Aplasia/Hypoplasia of the distal phalanges of the toes

# concept[].display
Abnormality of the middle phalanges of the toes

# concept[].display
Abnormality of the distal phalanges of the toes

# concept[].display
Symphalangism affecting the phalanges of the toes

# concept[].display
Osteolytic defects of the phalanges of the toes

# concept[].display
Fragmentation of the epiphyses of the toes

# concept[].display
Abnormality of the phalanges of the toes

# concept[].display
Abnormality of the epiphyses of the toes

# concept[].display
Triangular epiphysis of the 1st metatarsal

# concept[].display
Stippling of the epiphysis of the 1st metatarsal

# concept[].display
Irregular epiphysis of the 1st metatarsal

# concept[].display
Fragmentation of the epiphysis of the 1st metatarsal

# concept[].display
Enlarged epiphysis of the 1st metatarsal

# concept[].display
Cone-shaped epiphysis of the 1st metatarsal

# concept[].display
Cleft at the superior portion of the pinna

# concept[].display
Triangular epiphysis of the distal phalanx of the hallux

# concept[].display
Stippling of the epiphysis of the distal phalanx of the hallux

# concept[].display
Small epiphysis of the distal phalanx of the hallux

# concept[].display
Pseudoepiphysis of the distal phalanx of the hallux

# concept[].display
Ivory epiphysis of the distal phalanx of the hallux

# concept[].display
Irregular epiphysis of the distal phalanx of the hallux

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the hallux

# concept[].display
Enlarged epiphysis of the distal phalanx of the hallux

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the hallux

# concept[].display
development involved in symbiotic interaction

# concept[].display
growth involved in symbiotic interaction

# concept[].display
bone mineralization involved in bone maturation

# concept[].display
Bracket epiphysis of the distal phalanx of the hallux

# concept[].display
Absent epiphysis of the distal phalanx of the hallux

# concept[].display
Triangular epiphysis of the proximal phalanx of the hallux

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the hallux

# concept[].display
olfactory tract linking bulb to ipsilateral dorsal telencephalon

# concept[].display
Pseudoepiphysis of the proximal phalanx of the hallux

# concept[].display
Irregular epiphysis of the proximal phalanx of the hallux

# concept[].display
Enlarged epiphysis of the proximal phalanx of the hallux

# concept[].display
kidney medulla collecting duct epithelial cell

# concept[].display
Abnormality of the vertebral spinous processes

# concept[].display
kidney cortex collecting duct epithelial cell

# concept[].display
Bracket epiphysis of the proximal phalanx of the hallux

# concept[].display
Abnormality of the epiphysis of the 1st metatarsal

# concept[].display
Stippling of the epiphyses of the hallux

# concept[].display
Fragmentation of the epiphyses of the hallux

# concept[].display
Aplasia of the proximal phalanx of the hallux

# concept[].display
Aplasia of the distal phalanx of the hallux

# concept[].display
Partial duplication of the phalanges of the hallux

# concept[].display
interleukin-3 receptor subunit alpha (mouse)

# concept[].display
interleukin-3 receptor subunit alpha (human)

# concept[].display
positive regulation of cellular amino acid metabolic process

# concept[].display
negative regulation of cellular amino acid metabolic process

# concept[].display
Impaired sensitivity to thyroid stimulating hormone

# concept[].display
positive regulation of respiratory burst involved in inflammatory response

# concept[].display
positive regulation of respiratory burst

# concept[].display
Thyrotoxicosis with toxic multinodular goitre

# concept[].display
Thyrotoxicosis from ectopic thyroid tissue

# concept[].display
positive regulation of cellular catabolic process

# concept[].display
glycophorin-A, signal peptide removed form

# concept[].display
positive regulation of G protein-coupled receptor signaling pathway

# concept[].display
negative regulation of G protein-coupled receptor signaling pathway

# concept[].display
Posterior fossa cyst at the fourth ventricle

# concept[].display
Abnormality of the parathyroid physiology

# concept[].display
Abnormality of the parathyroid morphology

# concept[].display
Eye of the tiger anomaly of globus pallidus

# concept[].display
Osteolytic defects of the middle phalanx of the 4th toe

# concept[].display
positive regulation of spermatid nuclear differentiation

# concept[].display
Congenital malformation of the right heart

# concept[].display
Supracardiac total anomalous pulmonary venous connection

# concept[].display
pharyngeal opening of pharyngotympanic tube

# concept[].display
entire pharyngeal arch associated mesenchyme

# concept[].display
Increased reactive oxygen species production

# concept[].display
carcinoembryonic antigen-related cell adhesion molecule 8, signal peptide removed form

# concept[].display
Increased variability in muscle fiber diameter

# concept[].display
negative regulation of cartilage development

# concept[].display
positive regulation of cartilage development

# concept[].display
positive regulation of intestinal absorption

# concept[].display
positive regulation of nervous system development

# concept[].display
Nodular-random pattern on pulmonary HRCT

# concept[].display
somatic sensation related behavior phenotype

# concept[].display
apoptotic process involved in development

# concept[].display
positive regulation of molecular function

# concept[].display
negative regulation of molecular function

# concept[].display
positive regulation of cellular component biogenesis

# concept[].display
regulation of cellular component biogenesis

# concept[].display
regulation of protein modification process

# concept[].display
Bullet-shaped distal phalanx of the hallux

# concept[].display
Cervical vertebral bodies with decreased anteroposterior diameter

# concept[].display
positive regulation of catalytic activity

# concept[].display
negative regulation of catalytic activity

# concept[].display
Complete duplication of the 1st metatarsal

# concept[].display
Partial duplication of the distal phalanx of the hallux

# concept[].display
Complete duplication of the distal phalanx of the hallux

# concept[].display
Partial duplication of the proximal phalanx of the hallux

# concept[].display
Complete duplication of the proximal phalanx of the hallux

# concept[].display
Duplication of the proximal phalanx of the hallux

# concept[].display
Symphalangism affecting the proximal phalanx of the hallux

# concept[].display
Patchy sclerosis of the proximal phalanx of the hallux

# concept[].display
regulation of respiratory system process

# concept[].display
Narrow anterio-posterior vertebral body diameter

# concept[].display
Bullet-shaped proximal phalanx of the hallux

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the hallux

# concept[].display
locomotion involved in locomotory behavior

# concept[].display
Symphalangism affecting the distal phalanx of the hallux

# concept[].display
Patchy sclerosis of the distal phalanx of the hallux

# concept[].display
Osteolytic defects of the distal phalanx of the hallux

# concept[].display
Absent spinous processes of lower thoracic and lumbar vertebrae

# concept[].display
Triangular shaped distal phalanx of the hallux

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the hallux

# concept[].display
negative regulation of morphogenesis of an epithelium

# concept[].display
Triangular shaped phalanges of the hallux

# concept[].display
Osteolytic defects of the phalanges of the hallux

# concept[].display
Progressive cervical vertebral spine fusion

# concept[].designation[].value
palmitoylcarnitine + CoASH => palmitoyl-CoA + carnitine

# concept[].display
Aplasia/Hypoplasia of the phalanges of the hallux

# concept[].display
Abnormality of the phalanges of the hallux

# concept[].display
Abnormality of the epiphyses of the hallux

# concept[].display
Abnormality of the first metatarsal bone

# concept[].display
Abnormality of the distal phalanx of the hallux

# concept[].display
Abnormal morphology of the proximal phalanx of the hallux

# concept[].display
Abnormal female reproductive system physiology

# concept[].display
Absent in utero ossification of vertebral bodies

# concept[].display
Aplasia/Hypoplasia of the 5th metacarpal

# concept[].display
Aplasia/Hypoplasia of the 4th metacarpal

# concept[].display
Aplasia/Hypoplasia of the 3rd metacarpal

# concept[].display
Aplasia/Hypoplasia of the 2nd metacarpal

# concept[].display
Osteolytic defects of the 1st metacarpal

# concept[].display
Aplasia/Hypoplasia of the 1st metacarpal

# concept[].display
Triangular epiphysis of the 1st metacarpal

# concept[].display
Epiphyseal stippling of the first metacarpal

# concept[].display
Irregular epiphysis of the 1st metacarpal

# concept[].display
Fragmentation of the epiphysis of the 1st metacarpal

# concept[].display
Enlarged epiphysis of the 1st metacarpal

# concept[].display
Cone-shaped epiphysis of the 1st metacarpal

# concept[].display
positive regulation of glial cell differentiation

# concept[].display
negative regulation of glial cell differentiation

# concept[].display
regulation of glial cell differentiation

# concept[].display
positive regulation of epidermis development

# concept[].display
negative regulation of epidermis development

# concept[].display
Duplication of the distal phalanx of the thumb

# concept[].display
Duplication of the middle phalanx of hand

# concept[].display
Duplication of the proximal phalanx of hand

# concept[].display
Partial duplication of the middle phalanges of the hand

# concept[].display
Partial duplication of the distal phalanges of the hand

# concept[].display
Partial duplication of the proximal phalanges of the hand

# concept[].display
Complete duplication of the middle phalanges of the hand

# concept[].display
Complete duplication of the distal phalanges of the hand

# concept[].display
Complete duplication of the proximal phalanges of the hand

# concept[].display
tolerance induction dependent upon immune response

# concept[].display
cartilage development involved in endochondral bone morphogenesis

# concept[].display
ALPI dimer hydrolyses phosphate monoesters

# concept[].display
Supraventricular tachycardia with a manifest accessory pathway on the right free wall

# concept[].display
Supraventricular tachycardia with a manifest accessory pathway on the left free wall

# concept[].display
Supraventricular tachycardia with a manifest accessory pathway

# concept[].display
Supraventricular tachycardia with a concealed accessory pathway on the septum

# concept[].display
Supraventricular tachycardia with a concealed accessory pathway on the right free wall

# concept[].display
respiratory system lymphatic vessel smooth muscle

# concept[].display
positive regulation of neuron differentiation

# concept[].display
negative regulation of neuron differentiation

# concept[].display
Supraventricular tachycardia with a concealed accessory connection

# concept[].display
Supraventricular tachycardia with an accessory connection mediated pathway

# concept[].display
catalytic activity, acting on a glycoprotein

# concept[].display
Single ventricle of indeterminate morphology

# concept[].display
Punctate periventricular T2 hyperintense foci

# concept[].display
positive regulation of monocyte differentiation

# concept[].display
negative regulation of monocyte differentiation

# concept[].designation[].value
renin, signal peptide removed form (human)

# concept[].display
T-cell acute lymphocytic leukemia protein 1 (human)

# concept[].display
Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

# concept[].display
Tetralogy of Fallot with atrioventricular canal defect

# concept[].display
Tetralogy of Fallot with absent subarterial conus

# concept[].display
Left superior vena cava draining to coronary sinus

# concept[].display
Abnormal muscle fiber dystrophin expression

# concept[].display
positive regulation of basophil differentiation

# concept[].display
negative regulation of basophil differentiation

# concept[].display
CD48 molecule, signal peptide removed form

# concept[].display
Left superior vena cava draining directly to the left atrium

# concept[].display
Bilateral superior vena cava with no bridging vein

# concept[].display
Bilateral superior vena cava with bridging vein

# concept[].display
Anomalous origin of left pulmonary artery from ascending aorta

# concept[].display
positive regulation of myeloid cell differentiation

# concept[].display
negative regulation of myeloid cell differentiation

# concept[].display
regulation of myeloid cell differentiation

# concept[].display
Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

# concept[].display
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

# concept[].display
Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

# concept[].display
Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis

# concept[].display
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

# concept[].display
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

# concept[].display
bony part of vertebral arch of first sacral vertebra

# concept[].display
Patent ductus arteriosus after premature birth

# concept[].display
Patent ductus arteriosus after birth at term

# concept[].display
modulation by host of symbiont phagocytosis

# concept[].display
Anomalous origin of left coronary artery from the pulmonary artery

# concept[].display
Anomalous origin of coronary artery from the pulmonary artery

# concept[].display
Partial diaphragmatic absence of pericardium

# concept[].display
Partial left sided absence of pericardium

# concept[].display
Complete left sided absence of pericardium

# concept[].display
Complete right sided absence of pericardium

# concept[].display
positive regulation of epidermal cell differentiation

# concept[].display
negative regulation of epidermal cell differentiation

# concept[].display
regulation of epidermal cell differentiation

# concept[].display
Multiple muscular ventricular septal defects

# concept[].display
Apical muscular ventricular septal defect

# concept[].display
Mosaic attenuation pattern on pulmonary HRCT

# concept[].display
Decreased attenuation pattern on pulmonary HRCT

# concept[].display
Combined cystic and ground-glass pattern on pulmonary HRCT

# concept[].display
Reticulonodular pattern on pulmonary HRCT

# concept[].display
regulation of glycoprotein metabolic process

# concept[].display
T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form

# concept[].display
CD2 molecule, signal peptide removed form

# concept[].display
Pulmonary situs ambiguus with bilateral morphologic left lungs

# concept[].display
Pulmonary situs ambiguus with bilateral morphologic right lungs

# concept[].display
Diet-resistant subcutaneous adipose tissue below waist

# concept[].display
neural cell adhesion molecule 1, signal peptide removed form

# concept[].display
Congenitally corrected transposition of the great arteries with ventricular septal defect

# concept[].display
Congenital malformation of the great arteries

# concept[].display
Degeneration of the lateral corticospinal tracts

# concept[].display
integrin alpha-M, signal peptide removed form

# concept[].display
endothelial transcription factor GATA-2 (mouse)

# concept[].display
Abnormality of medullary pyramid morphology

# concept[].display
receptor-type tyrosine-protein phosphatase C, signal peptide removed form

# concept[].display
CD4 molecule, signal peptide removed form

# concept[].display
CD34 molecule, signal peptide removed form

# concept[].display
CD19 molecule, signal peptide removed form

# concept[].display
Anti-multiple nuclear dots antibody positivity

# concept[].display
Autosomal dominant germline de novo mutation

# concept[].display
Abnormality of urine bicarbonate concentration

# concept[].display
negative regulation of lymphocyte apoptotic process

# concept[].display
regulation of lymphocyte apoptotic process

# concept[].display
regulation of generation of precursor metabolites and energy

# concept[].display
Sclerotic foci of metaphyses of the elbow

# concept[].display
mesenchyme of submandibular gland primordium

# concept[].display
Abnormality of the epiphyses of the elbow

# concept[].display
Irregular articular surfaces of the elbow joints

# concept[].display
Abnormality of the joint spaces of the elbow

# concept[].display
Periosteal new bone of humeral diaphysis

# concept[].display
Cortical thickening of humeral diaphysis

# concept[].display
Cortical irregularity of humeral diaphysis

# concept[].display
Stippled calcification of humeral metaphysis

# concept[].display
Increased level of galactitol in red blood cells

# concept[].display
probable C-C chemokine receptor type 3 (mouse)

# concept[].display
Abnormal vertical rectus muscle physiology

# concept[].display
Sclerotic humeral metaphysis with longitudinal striations

# concept[].display
Irregular ossification of humeral metaphyses

# concept[].display
Recurrent loss of toenails and fingernails

# concept[].display
Cortical subperiosteal resorption of humeral metaphyses

# concept[].display
cellular component organization or biogenesis

# concept[].display
Stippled calcification of the humeral epiphyses

# concept[].display
manual digit 4 metacarpus cartilage element

# concept[].display
sperm flagellum movement involved in flagellated sperm motility

# concept[].display
Contractures involving the joints of the feet

# concept[].display
pedal digit 1 phalanx pre-cartilage condensation

# concept[].display
negative regulation of cobalamin metabolic process

# concept[].display
positive regulation of cobalamin metabolic process

# concept[].display
Decreased activity of mitochondrial complex IV

# concept[].display
Elevated plasma branched chain amino acids

# concept[].display
Abnormal muscle fiber alpha dystroglycan

# concept[].display
Partial functional complement factor D deficiency

# concept[].display
Contractures of the joints of the upper limbs

# concept[].display
Impaired von Willibrand factor collagen binding activity

# concept[].display
Decreased activity of mitochondrial complex II

# concept[].display
Spinal cord posterior columns myelin loss

# concept[].display
negative regulation of fat cell differentiation

# concept[].display
positive regulation of cell differentiation

# concept[].display
negative regulation of cell differentiation

# concept[].display
negative regulation of peptide secretion

# concept[].display
Abnormal iron deposition in mitochondria

# concept[].display
Partial duplication of the phalanx of hand

# concept[].display
Partial duplication of the proximal phalanx of the 5th finger

# concept[].display
Partial duplication of the middle phalanx of the 5th finger

# concept[].display
Partial duplication of the distal phalanx of the 5th finger

# concept[].display
Complete duplication of the proximal phalanx of the 5th finger

# concept[].display
Complete duplication of the middle phalanx of the 5th finger

# concept[].display
positive regulation of T cell differentiation

# concept[].display
Duplication of the middle phalanx of the 5th finger

# concept[].display
positive regulation of B cell differentiation

# concept[].display
Partial duplication of the phalanges of the 5th finger

# concept[].display
Partial duplication of the proximal phalanx of the 4th finger

# concept[].display
Partial duplication of the middle phalanx of the 4th finger

# concept[].display
Partial duplication of the distal phalanx of the 4th finger

# concept[].display
Complete duplication of the proximal phalanx of the 4th finger

# concept[].display
Duplication of the proximal phalanx of the 4th finger

# concept[].display
Duplication of the distal phalanx of the 4th finger

# concept[].display
Partial duplication of the phalanges of the 4th finger

# concept[].display
Complete duplication of the phalanges of the 4th finger

# concept[].display
Partial duplication of the proximal phalanx of the 3rd finger

# concept[].display
Common origin of the right brachiocephalic artery and left common carotid artery

# concept[].display
Partial duplication of the distal phalanx of the 3rd finger

# concept[].display
Complete duplication of the proximal phalanx of the 3rd finger

# concept[].display
Complete duplication of the middle phalanx of the 3rd finger

# concept[].display
Complete duplication of the distal phalanx of the 3rd finger

# concept[].display
Duplication of the proximal phalanx of the 3rd finger

# concept[].display
Duplication of the middle phalanx of the 3rd finger

# concept[].display
Duplication of the distal phalanx of the 3rd finger

# concept[].display
Partial duplication of the phalanges of the 3rd finger

# concept[].display
Complete duplication of the phalanges of the 2nd finger

# concept[].display
Partial duplication of the phalanges of the 2nd finger

# concept[].display
Partial duplication of the proximal phalanx of the 2nd finger

# concept[].display
Complete duplication of the proximal phalanx of the 2nd finger

# concept[].display
Partial duplication of the distal phalanx of the 2nd finger

# concept[].display
Complete duplication of the distal phalanx of the 2nd finger

# concept[].display
Duplication of the middle phalanx of the 2nd finger

# concept[].display
Abnormality of the autonomic nervous system

# concept[].display
intrinsic component of synaptic membrane

# concept[].display
Double inlet to single ventricle with two atrioventricular valves

# concept[].display
Double inlet to single ventricle with common atrioventricular orifice

# concept[].display
Univentricular heart with absent left sided atrioventricular connection

# concept[].display
Absent right sided atrioventricular connection

# concept[].display
Absent left sided atrioventricular connection

# concept[].display
negative regulation of chromosome organization

# concept[].display
regulation of skeletal muscle contraction via regulation of action potential

# concept[].display
Abnormal spatial orientation of the cardiac segments

# concept[].display
Multiple bilateral congenital hypertrophy of retinal pigment epithelium

# concept[].display
Solitary congenital hypertrophy of retinal pigment epithelium

# concept[].display
low affinity immunoglobulin gamma Fc region receptor II (mouse)

# concept[].display
positive regulation of enamel mineralization

# concept[].display
positive regulation of biomineral tissue development

# concept[].display
negative regulation of biomineral tissue development

# concept[].display
regulation of biomineral tissue development

# concept[].display
regulation of skeletal muscle contraction

# concept[].display
Abnormality of the upper respiratory tract

# concept[].display
Irregular ossification of the humeral epiphyses

# concept[].display
An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3

# concept[].display
Abnormality of synovial bursa morphology

# concept[].display
plasma membrane signaling receptor complex

# concept[].display
Cortical diaphyseal thickening of the upper limbs

# concept[].display
Cortical diaphyseal irregularity of the upper limbs

# concept[].display
Sclerosis of metaphyses of the upper limbs

# concept[].display
Sclerosis with transverse striations in metaphyses of the upper limbs

# concept[].display
Normal density transverse bands in metaphyses of the upper limbs

# concept[].display
Lytic defects in metaphyses of the upper limbs

# concept[].display
Wide epiphyseal plates of the upper limbs

# concept[].display
Delayed upper limb epiphyseal ossification

# concept[].display
Muscle fiber actin filament accumulation

# concept[].display
negative regulation of catalase activity

# concept[].display
Abnormality of upper limb epiphysis morphology

# concept[].display
Soft-tissue ossification around the shoulders

# concept[].display
Increased level of N-acetylneuraminic acid in fibroblasts

# concept[].display
regulation of phosphate metabolic process

# concept[].display
positive regulation of intracellular signal transduction

# concept[].display
negative regulation of intracellular signal transduction

# concept[].display
regulation of intracellular signal transduction

# concept[].display
distal carpal bone 3 endochondral element

# concept[].display
Decreased glucose-6-phosphate dehydrogenase level in blood

# concept[].display
regulation of cobalamin metabolic process

# concept[].display
Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

# concept[].display
Muscle abnormality related to mitochondrial dysfunction

# concept[].display
Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

# concept[].display
Increased glucose-6-phosphate dehydrogenase level in tissue

# concept[].display
Abnormal uridine diphosphate glucose-4-epimerase activity in plasma

# concept[].display
Increased red cell hemolysis by shear stress

# concept[].display
Thyroid defect in oxidation and organification of iodide

# concept[].display
Response to drugs acting on neuromuscular transmission

# concept[].display
positive regulation of inflammatory response to wounding

# concept[].display
negative regulation of multicellular organismal process

# concept[].display
Abnormal morphology of erythroid progenitor cell

# concept[].display
Elevated circulating follicle stimulating hormone level

# concept[].display
manual digit phalanx endochondral element

# concept[].display
manual digit 2 phalanx endochondral element

# concept[].display
manual digit 4 phalanx endochondral element

# concept[].display
negative regulation of lymphocyte activation

# concept[].display
Abnormal vertebral segmentation and fusion

# concept[].display
vascular endothelial growth factor receptor 2 (human)

# concept[].display
pedal digit 2 metatarsal endochondral element

# concept[].display
negative regulation of cellular component movement

# concept[].display
positive regulation of cellular component movement

# concept[].display
Precocious puberty with Sertoli cell tumor

# concept[].display
Intracranial internal carotid artery dissection

# concept[].display
Agenesis of permanent maxillary central incisor

# concept[].display
Agenesis of primary mandibular central incisor

# concept[].display
Duplication of the distal phalanx of hand

# concept[].display
cellular process involved in reproduction in multicellular organism

# concept[].display
Increased vertical cup-to-disc ratio - 1.0

# concept[].display
Reduced number of corneal endothelial cells

# concept[].display
negative regulation of cell-cell adhesion

# concept[].display
Reduced red cell adenosine deaminase activity

# concept[].display
Triangular shaped distal phalanges of the hand

# concept[].display
Abnormal migration of corneal endothelium

# concept[].display
EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor

# concept[].display
Posterior synechiae of the anterior chamber

# concept[].display
Anterior synechiae of the anterior chamber

# concept[].display
Childhood onset sensorineural hearing impairment

# concept[].display
Triangular shaped proximal phalanges of the hand

# concept[].display
Osteolytic defects of the proximal phalanges of the hand

# concept[].display
Aplasia/Hypoplasia of the proximal phalanges of the hand

# concept[].display
Bullet-shaped middle phalanges of the hand

# concept[].display
Aplasia/Hypoplasia of the middle phalanges of the hand

# concept[].display
Functional abnormality of the middle ear

# concept[].display
Impaired vibration sensation in the lower limbs

# concept[].display
Aplasia/Hypoplasia of the distal phalanges of the hand

# concept[].display
Abnormal proximal phalanx morphology of the hand

# concept[].display
Abnormal middle phalanx morphology of the hand

# concept[].display
Abnormal distal phalanx morphology of finger

# concept[].display
EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor

# concept[].display
Aplasia involving bones of the extremities

# concept[].display
Aplasia involving bones of the upper limbs

# concept[].display
EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor

# concept[].display
Low maternal serum chorionic gonadotropin

# concept[].display
transmembrane emp24 domain-containing protein 1 (human)

# concept[].display
Aplasia involving bones of the lower limbs

# concept[].display
Generalized tonic-clonic seizures without focal onset

# concept[].display
EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor

# concept[].display
Centrilobular ground-glass opacification on pulmonary HRCT

# concept[].display
Childhood onset short-limb short stature

# concept[].display
Ground-glass opacification on pulmonary HRCT

# concept[].display
Nodular septal thickening on pulmonary HRCT

# concept[].display
Restrictive deficit on pulmonary function testing

# concept[].display
Neuronal/glioneuronal neoplasm of the central nervous system

# concept[].display
neuron associated cell (sensu Vertebrata)

# concept[].display
Abnormality of hepatobiliary system physiology

# concept[].display
Type 1 and type 2 muscle fiber minicore regions

# concept[].display
positive regulation of sperm capacitation

# concept[].display
Increased anti-plant based food allergen IgE antibody level

# concept[].display
Abnormal serum mast cell beta-tryptase concentration

# concept[].display
Abnormal total hemolytic complement activity

# concept[].display
Increased total hemolytic complement activity

# concept[].display
Decreased total hemolytic complement activity

# concept[].display
protein localization to extracellular region

# concept[].display
Increased anti-meat allergen IgE antibody level

# concept[].display
Genetic anticipation with paternal anticipation bias

# concept[].display
negative regulation of apoptotic process

# concept[].display
Abnormal great auricular nerve morphology

# concept[].display
positive regulation of mononuclear cell migration

# concept[].display
Abnormality of inferior oblique extraocular muscle

# concept[].display
Abnormality of inferior rectus extraocular muscle

# concept[].display
Abnormal inferior thyroid vein morphology

# concept[].designation[].value
interleukin-2 receptor subunit beta, signal peptide removed form (human)

# concept[].display
Generalized muscular appearance from birth

# concept[].display
Absence of secondary sex characteristics

# concept[].display
Abnormality of lateral rectus extra-ocular muscle

# concept[].display
Increased vertical cup-to-disc ratio - 0.8

# concept[].display
Increased bone density with cystic changes

# concept[].display
Abnormal mandible condylar process morphology

# concept[].display
Decreased proportion circulating T-helper cells

# concept[].display
Elevated serum transaminases during infections

# concept[].display
hematopoietic progenitor cell antigen CD34 (mouse)

# concept[].display
regulation of secretory granule organization

# concept[].display
Spinal stenosis with reduced interpedicular distance

# concept[].display
positive regulation of nervous system process

# concept[].display
negative regulation of nervous system process

# concept[].display
Increased subcutaneous truncal adipose tissue

# concept[].display
Abnormal tricuspid valve leaflet morphology

# concept[].display
Contractures of the joints of the lower limbs

# concept[].display
Decreased circulating follicle stimulating hormone level

# concept[].display
Plantar crease between first and second toes

# concept[].display
Expanded metatarsals with widened medullary cavities

# concept[].display
Aplasia/Hypoplasia of the musculature of the thigh

# concept[].display
Abnormality of the dorsal column of the spinal cord

# concept[].display
respiratory system arterial blood vessel

# concept[].display
Morphological abnormality of the inner ear

# concept[].display
distal epiphysis of distal phalanx of pedal digit 4

# concept[].designation[].value
integrin alpha-M, signal peptide removed form (human)

# concept[].display
Symphalangism affecting the phalanges of the hand

# concept[].display
Osteolytic defects of the phalanges of the hand

# concept[].display
EC 3.1.1.* (carboxylic ester hydrolase) inhibitor

# concept[].display
Abnormality of the internal auditory canal

# concept[].display
Aplasia/Hypoplasia of the phalanges of the hand

# concept[].display
Abnormal proportion of marginal zone B cells

# concept[].display
regulation of respiratory burst involved in inflammatory response

# concept[].display
negative regulation of respiratory burst

# concept[].display
Hypoplasia of the vestibule of the inner ear

# concept[].display
Morphological abnormality of the vestibule of the inner ear

# concept[].display
Pyramidal skinfold extending from the base to the top of the nails

# concept[].display
Abnormality of extrapyramidal motor function

# concept[].display
Curved linear dimple below the lower lip

# concept[].display
Abnormal large intestinal mucosa morphology

# concept[].display
regulation of cilium movement involved in cell motility

# concept[].display
high affinity immunoglobulin epsilon receptor subunit alpha (mouse)

# concept[].display
fetal liver hematopoietic progenitor cell

# concept[].display
Complete duplication of the distal phalanx of the 4th toe

# concept[].display
Absent epiphysis of the distal phalanx of the 5th finger

# concept[].display
Abnormality of olfactory lobe morphology

# concept[].display
Elevated brain N-acetyl aspartate level by MRS

# concept[].display
Abnormal brain N-acetyl aspartate level by MRS

# concept[].display
regulation of somatic stem cell division

# concept[].display
Centrally nucleated skeletal muscle fibers

# concept[].display
Abnormality of digestive system physiology

# concept[].display
cobalamin binding intrinsic factor (mouse)

# concept[].display
Amyotrophy of the musculature of the pelvis

# concept[].display
Abnormality of enteric neuron morphology

# concept[].display
Abnormality of enteric nervous system morphology

# concept[].display
Reduced circulating leukotriene C4 concentration

# concept[].display
Granular osmiophilic deposits (GROD) in cells

# concept[].display
cellular response to DNA damage stimulus

# concept[].display
Decreased circulating heparan sulfate level

# concept[].display
Shortened O-fucosylated glycan on properdin

# concept[].display
increased amount of liquid in a single drinking act

# concept[].display
proximal epiphysis of phalanx of manual digit 5

# concept[].display
Loss of subcutaneous adipose tissue in limbs

# concept[].display
proximal epiphysis of fifth metacarpal bone

# concept[].display
proximal epiphysis of third metatarsal bone

# concept[].display
negative regulation of chromosome condensation

# concept[].display
Increased monosialylated core 1 O-glycan level

# concept[].display
regulation of apoptotic process involved in morphogenesis

# concept[].display
Increased hepatitis A virus antibody level

# concept[].display
regulation of striated muscle contraction

# concept[].display
Elevated proportion of naive CD4 T cells

# concept[].display
proximal epiphysis of middle phalanx of manual digit 5

# concept[].display
Reduced red cell pyruvate kinase activity

# concept[].display
Foam cells with lamellar inclusion bodies

# concept[].display
Abnormal proportion of CD8-positive, alpha-beta memory T cells

# concept[].display
Abnormal proportion of effector memory CD8-positive, alpha-beta T cells

# concept[].display
Abnormal proportion of central memory CD8-positive, alpha-beta T cells

# concept[].display
movement of cell or subcellular component

# concept[].display
2nd-5th toe middle phalangeal hypoplasia

# concept[].display
cellular component disassembly involved in execution phase of apoptosis

# concept[].display
fibrous membrane of synovial tendon sheath

# concept[].display
synovial membrane of synovial tendon sheath

# concept[].display
Decreased proportion of effector memory CD8-positive, alpha-beta T cells

# concept[].display
Increased proportion of CD4-positive, alpha-beta memory T cells

# concept[].display
Increased proportion of CD8-positive, alpha-beta memory T cells

# concept[].display
Increased proportion of effector memory CD4-positive, alpha-beta T cells

# concept[].display
midbrain hindbrain boundary neural plate

# concept[].display
Aplasia/Hypoplasia affecting the anterior segment of the eye

# concept[].display
central nervous system cell part cluster

# concept[].display
Abnormal morphology of the conjunctival vasculature

# concept[].display
Abnormality of the vasculature of the eye

# concept[].display
nucleus pulposus cell of intervertebral disc

# concept[].display
lower respiratory tract connective tissue

# concept[].display
natural killer cell receptor 2B4 (mouse)

# concept[].display
positive regulation of respiratory gaseous exchange

# concept[].display
negative regulation of respiratory gaseous exchange

# concept[].display
Contracture of the distal interphalangeal joint of the fingers

# concept[].display
negative regulation of cysteine metabolic process

# concept[].display
Triangular epiphysis of the distal phalanx of the thumb

# concept[].display
Stippling of the epiphysis of the distal phalanx of the thumb

# concept[].display
Small epiphysis of the distal phalanx of the thumb

# concept[].display
Pseudoepiphysis of the distal phalanx of the thumb

# concept[].display
Ivory epiphysis of the distal phalanx of the thumb

# concept[].display
Irregular epiphysis of the distal phalanx of the thumb

# concept[].display
Symphalangism affecting the distal phalanx of the 3rd toe

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the thumb

# concept[].display
Enlarged epiphysis of the distal phalanx of the thumb

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the thumb

# concept[].display
Bracket epiphysis of the distal phalanx of the thumb

# concept[].display
Absent epiphysis of the distal phalanx of the thumb

# concept[].display
Triangular epiphysis of the proximal phalanx of the thumb

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the thumb

# concept[].display
Pseudoepiphysis of the proximal phalanx of the thumb

# concept[].display
Ivory epiphysis of the proximal phalanx of the thumb

# concept[].display
plasma membrane proton-transporting ATP synthase complex

# concept[].display
Irregular epiphysis of the proximal phalanx of the thumb

# concept[].display
Enlarged epiphysis of the proximal phalanx of the thumb

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the thumb

# concept[].display
Bracket epiphysis of the proximal phalanx of the thumb

# concept[].display
Absent epiphysis of the proximal phalanx of the thumb

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the thumb

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the thumb

# concept[].display
Aplasia/Hypoplasia of the phalanges of the thumb

# concept[].display
regulation of glutamine family amino acid metabolic process

# concept[].display
regulation of cell differentiation involved in tissue homeostasis

# concept[].display
Aplasia of the distal phalanx of the thumb

# concept[].display
Triangular shaped distal phalanx of the thumb

# concept[].display
Abnormality of the distal phalanx of the 5th finger

# concept[].display
Patchy sclerosis of the distal phalanx of the thumb

# concept[].display
Osteolytic defect of the distal phalanx of the thumb

# concept[].display
Bullet-shaped distal phalanx of the thumb

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the thumb

# concept[].display
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

# concept[].display
Expanded terminal portion of crus of helix

# concept[].display
Increased level of galactonate in red blood cells

# concept[].display
Patchy sclerosis of the proximal phalanx of the thumb

# concept[].display
Osteolytic defect of the proximal phalanx of the thumb

# concept[].display
Bullet-shaped proximal phalanx of the thumb

# concept[].display
Underdeveloped superior crus of antihelix

# concept[].display
Abnormality of superior crus of antihelix

# concept[].display
Abnormality of inferior crus of antihelix

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the thumb

# concept[].display
Contractures of the interphalangeal joint of the thumb

# concept[].display
Contractures of the metacarpophalangeal joint of the thumb

# concept[].display
Contractures of the carpometacarpal joint of the thumb

# concept[].display
Underdeveloped inferior crus of antihelix

# concept[].display
Abnormality of the proximal phalanx of the thumb

# concept[].display
Abnormality of the distal phalanx of the thumb

# concept[].display
Complete duplication of the first metacarpal

# concept[].display
Complete duplication of proximal phalanx of the thumb

# concept[].display
Complete duplication of distal phalanx of the thumb

# concept[].display
regulation of lipid biosynthetic process

# concept[].display
EEG with photoparoxysmal response grade IV

# concept[].display
EEG with photoparoxysmal response grade III

# concept[].display
EEG with photoparoxysmal response grade II

# concept[].display
EEG with photoparoxysmal response grade I

# concept[].display
positive regulation of lipid biosynthetic process

# concept[].display
negative regulation of hormone secretion

# concept[].display
EEG with generalized slow activity grade 4

# concept[].display
EEG with generalized slow activity grade 2

# concept[].display
EEG with generalized slow activity grade 1

# concept[].display
EEG with generalized polymorphic epileptiform discharges

# concept[].display
Abnormal lower-limb motor evoked potentials

# concept[].display
Abnormality of tensor veli palatini muscle

# concept[].display
Abnormal male reproductive system physiology

# concept[].display
naive thymus-derived CD4-positive, alpha-beta T cell

# concept[].display
activated CD4-positive, alpha-beta T cell

# concept[].display
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

# concept[].display
Stippling of the epiphyses of the 5th toe

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 3rd toe

# concept[].display
parathyroid hormone, signal peptide removed form

# concept[].display
hepatic sinusoid of right of lobe of liver

# concept[].display
hepatic sinusoid of left of lobe of liver

# concept[].display
primary subdivision of cranial skeletal system

# concept[].display
Deficiency or absence of cytochrome b(-245)

# concept[].display
Reduced ratio of renal calcium clearance to creatinine clearance

# concept[].display
mesenchyme of sublingual gland primordium

# concept[].display
mesothelial cell of anterior chamber of eye

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 4th toe

# concept[].display
epithelial cell of external acoustic meatus

# concept[].display
Abnormal tricuspid chordae tendinae morphology

# concept[].display
negative regulation of platelet activation

# concept[].display
T-cell surface glycoprotein CD5, signal peptide removed form

# concept[].display
Delayed pneumatization of the mastoid process

# concept[].display
positive regulation of chromosome condensation

# concept[].display
regulation of mitochondrial gene expression

# concept[].display
Rhomboid or triangular shaped 5th finger middle phalanx

# concept[].display
Abnormality of the epiphyses of the hand

# concept[].display
Abnormalities of the diaphyses of the hand

# concept[].display
Symmetric spinal nerve root neurofibromas

# concept[].display
Abnormal respiratory motile cilium morphology

# concept[].display
Moderate constriction of peripheral visual field

# concept[].display
Abnormal best corrected visual acuity test

# concept[].display
positive regulation of cellular protein localization

# concept[].display
regulation of cellular protein localization

# concept[].display
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal

# concept[].display
Short proximal phalanx of the 2nd finger

# concept[].display
Aplasia of the proximal phalanx of the 2nd finger

# concept[].display
positive regulation of protein modification process

# concept[].display
Triangular shaped proximal phalanx of the 2nd finger

# concept[].display
Symphalangism affecting the proximal phalanx of the 2nd finger

# concept[].display
Patchy sclerosis of the proximal phalanx of the 2nd finger

# concept[].display
Osteolytic defects of the proximal phalanx of the 2nd finger

# concept[].display
Curved proximal phalanx of the 2nd finger

# concept[].display
Bullet-shaped proximal phalanx of the 2nd finger

# concept[].display
Broad proximal phalanx of the 2nd finger

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger

# concept[].display
Proximal/middle symphalangism of the 2nd finger

# concept[].display
Triangular shaped middle phalanx of the 2nd finger

# concept[].display
Symphalangism of middle phalanx of 2nd finger

# concept[].display
Bullet-shaped middle phalanx of the 2nd finger

# concept[].display
Restricted neck movement due to contractures

# concept[].display
Agenesis of primary mandibular lateral incisor

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

# concept[].display
Aplasia of the distal phalanx of the 2nd finger

# concept[].display
Distal/middle symphalangism of 2nd finger

# concept[].display
Increased serum bile acid concentration during pregnancy

# concept[].display
Abnormal liver function tests during pregnancy

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 2nd finger

# concept[].display
Osteolytic defects of the phalanges of the 2nd finger

# concept[].display
Bullet-shaped phalanges of the 2nd finger

# concept[].display
Triangular shaped phalanges of the 2nd finger

# concept[].display
Abnormality of the proximal phalanx of the 2nd finger

# concept[].display
Abnormality of the middle phalanx of the 2nd finger

# concept[].display
Abnormality of the distal phalanx of the 2nd finger

# concept[].display
positive regulation of mast cell differentiation

# concept[].display
negative regulation of mast cell differentiation

# concept[].display
CD8-positive, alpha-beta cytokine secreting effector T cell

# concept[].display
Contracture of the metacarpophalangeal joint of the 2nd finger

# concept[].display
Contracture of the distal interphalangeal joint of the 2nd finger

# concept[].display
Triangular epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Small epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Ivory epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Recurrent upper and lower respiratory tract infections

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Triangular epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Small epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Pseudoepiphysis of the middle phalanx of the 2nd finger

# concept[].display
Increased sensitivity to ionizing radiation

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Enlarged epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Bracket epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Absent epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Small epiphysis of the distal phalanx of the 2nd finger

# concept[].display
negative regulation of odontogenesis of dentin-containing tooth

# concept[].display
regulation of symbiosis, encompassing mutualism through parasitism

# concept[].display
Pseudoepiphysis of the distal phalanx of the 2nd finger

# concept[].display
Ivory epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Irregular epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Enlarged epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Absent epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Abnormality of tumor necrosis factor secretion

# concept[].display
Abnormality of immune serum protein physiology

# concept[].display
Bracket epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Ivory epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Abnormal left ventricular outflow tract morphology

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Absent ossification of thoracic vertebral bodies

# concept[].display
ossification involved in bone remodeling

# concept[].display
Ivory epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Pseudoepiphysis of the middle phalanx of the 3rd toe

# concept[].display
Triangular epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
regulation of production of molecular mediator of immune response

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Small epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Absent epiphysis of the distal phalanx of the 4th toe

# concept[].display
skeletal muscle tissue of levator palpebrae superioris

# concept[].display
Bracket epiphysis of the distal phalanx of the 4th toe

# concept[].display
Enlarged epiphysis of the distal phalanx of the 4th toe

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 4th toe

# concept[].display
Ivory epiphysis of the distal phalanx of the 4th toe

# concept[].display
Triangular epiphysis of the distal phalanx of the 4th toe

# concept[].display
Paradoxical increased cortisol secretion on dexamethasone suppression test

# concept[].display
Thinning and bulging of the posterior fossa bones

# concept[].display
Absent epiphysis of the middle phalanx of the 4th toe

# concept[].display
associated mesenchyme of foregut-midgut junction

# concept[].display
Elevated circulating long chain fatty acid concentration

# concept[].display
Decreased sensory nerve conduction velocity

# concept[].display
ceruloplasmin, signal peptide removed form

# concept[].display
negative regulation of mitotic sister chromatid segregation

# concept[].display
Decreased motor nerve conduction velocity

# concept[].display
Functional abnormality of the gastrointestinal tract

# concept[].display
Delayed ossification of vertebral epiphysis

# concept[].display
Irregular epiphysis of the middle phalanx of the 2nd finger

# concept[].display
dicarboxylic acids and O-substituted derivatives

# concept[].display
Reduced brain N-acetyl aspartate level by MRS

# concept[].display
regulation of circadian sleep/wake cycle, REM sleep

# concept[].display
regulation of striated muscle tissue development

# concept[].display
Distal sensory impairment of all modalities

# concept[].display
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

# concept[].display
positive regulation of organelle assembly

# concept[].display
negative regulation of organelle assembly

# concept[].display
cellular aromatic compound metabolic process

# concept[].display
EC 3.5.1.98 (histone deacetylase) inhibitor

# concept[].display
positive regulation of leukocyte differentiation

# concept[].display
negative regulation of leukocyte differentiation

# concept[].display
positive regulation of mitotic sister chromatid segregation

# concept[].display
Internally nucleated skeletal muscle fibers

# concept[].designation[].value
Emotionally unstable personality disorder, borderline type

# concept[].display
Abnormality of skeletal muscle fiber size

# concept[].display
negative regulation of small molecule metabolic process

# concept[].display
positive regulation of small molecule metabolic process

# concept[].display
fibroblast of dense regular elastic tissue

# concept[].display
fibroblast of tunica adventitia of artery

# concept[].display
Abnormal foveal morphology on macular OCT

# concept[].display
negative regulation of cell projection organization

# concept[].display
Foveal intraretinal hyporeflective spaces on macular OCT

# concept[].display
Smooth septal thickening on pulmonary HRCT

# concept[].display
cardiac muscle tissue of interventricular septum

# concept[].display
regulation of sulfur amino acid metabolic process

# concept[].display
negative regulation of cellular catabolic process

# concept[].display
regulation of secondary metabolic process

# concept[].display
Congenital stationary night blindness with normal fundus

# concept[].display
regulation of cellular biosynthetic process

# concept[].display
positive regulation of cellular metabolic process

# concept[].display
regulation of cellular metabolic process

# concept[].display
Increased urine sebacic acid concentration

# concept[].display
Increased level of gamma-aminobutyric acid in urine

# concept[].display
Increased level of hexanoylglycine in urine

# concept[].display
Increased level of L-pyroglutamic acid in urine

# concept[].display
outer epithelial layer of tympanic membrane

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 2nd finger

# concept[].display
positive regulation of innate immune response

# concept[].display
Stippling of the epiphyses of the 2nd finger

# concept[].display
Fragmentation of the epiphyses of the 2nd finger

# concept[].display
integral component of mitochondrial inner membrane

# concept[].display
intrinsic component of mitochondrial inner membrane

# concept[].display
integral component of organelle membrane

# concept[].display
Radial deviation of the hand or of fingers of the hand

# concept[].display
Deviation of the hand or of fingers of the hand

# concept[].display
Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

# concept[].display
Proximal/middle symphalangism of 3rd finger

# concept[].display
Proximal/middle symphalangism of 4th finger

# concept[].display
Contracture of the proximal interphalangeal joint of the 3rd finger

# concept[].display
Dentinogenesis imperfecta of primary and permanent teeth

# concept[].display
Decreased renal tubular phosphate excretion

# concept[].display
cell migration involved in heart development

# concept[].display
Short proximal phalanx of the 3rd finger

# concept[].display
Aplasia of the proximal phalanx of the 3rd finger

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger

# concept[].display
Patchy sclerosis of the proximal phalanx of the 3rd finger

# concept[].display
Increased level of O-phosphoethanolamine in urine

# concept[].display
Dentinogenesis imperfecta limited to primary teeth

# concept[].display
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains

# concept[].display
Osteolytic defects of the phalanges of the 3rd finger

# concept[].display
Bullet-shaped phalanges of the 3rd finger

# concept[].display
Triangular shaped middle phalanx of the 3rd finger

# concept[].display
Symphalangism of middle phalanx of 3rd finger

# concept[].display
Patchy sclerosis of the middle phalanx of the 3rd finger

# concept[].display
Agenesis of primary maxillary lateral incisor

# concept[].display
Agenesis of permanent mandibular central incisor

# concept[].display
Aplasia/Hypoplasia of the cervical spine

# concept[].display
Abnormality of the intrahepatic bile duct

# concept[].display
Aplasia of the distal phalanx of the 3rd finger

# concept[].display
Triangular shaped distal phalanx of the 3rd finger

# concept[].display
Distal/middle symphalangism of 3rd finger

# concept[].display
Patchy sclerosis of the distal phalanx of the 3rd finger

# concept[].display
Bullet-shaped distal phalanx of the 3rd finger

# concept[].display
Increased LH response to gonadotropin-releasing hormone stimulation test

# concept[].display
Abnormal blood transition element cation concentration

# concept[].display
Fragmentation of the epiphyses of the 3rd finger

# concept[].display
Complete duplication of the middle phalanx of the 2nd finger

# concept[].display
Partial duplication of the middle phalanx of the 2nd finger

# concept[].display
Abnormality of the gastrointestinal tract

# concept[].display
Abnormal circulating unsaturated fatty acid concentration

# concept[].display
Triangular shaped phalanges of the 4th finger

# concept[].display
Bullet-shaped phalanges of the 4th finger

# concept[].display
Stippling of the epiphyses of the 4th finger

# concept[].display
Double inlet to single ventricle of indeterminate morphology

# concept[].display
Abnormality of urine glucose concentration

# concept[].display
Aplasia cutis congenita over parietal area

# concept[].display
Bracket epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Irregular epiphysis of the proximal phalanx of the 5th toe

# concept[].display
positive regulation of transmembrane transport

# concept[].display
negative regulation of insulin secretion

# concept[].display
Ivory epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 5th toe

# concept[].display
Triangular epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Synostosis involving bones of the upper limbs

# concept[].display
Increased uridine diphosphate glucose-4-epimerase activity in plasma

# concept[].display
Decreased number of peripheral myelinated nerve fibers

# concept[].display
Regional left ventricular wall motion abnormality

# concept[].display
Enlargement of the proximal femoral epiphysis

# concept[].display
killer cell lectin-like receptor subfamily B member 1C (mouse)

# concept[].display
Abnormality of dorsoventral patterning of the limbs

# concept[].display
mesenchymal stem cell of abdominal adipose

# concept[].display
neuron projection bundle connecting eye with brain

# concept[].display
myeloid cell surface antigen CD33 (human)

# concept[].display
Abnormality of the femoral neck or head region

# concept[].display
mesenchymal stem cell of femoral bone marrow

# concept[].display
skeletal muscle tissue of pectoralis major striated muscle cell

# concept[].display
Duplication of the proximal phalanx of the 5th finger

# concept[].display
Complete duplication of the distal phalanx of the 5th finger

# concept[].display
muscle of posterior compartment of hindlimb stylopod

# concept[].display
Endopolyploidy on chromosome studies of bone marrow

# concept[].display
placental villus capillary endothelial cell

# concept[].display
placental amniotic mesenchymal stromal cell

# concept[].display
Abnormality of nervous system physiology

# concept[].display
Abnormal suspensory ligament of lens morphology

# concept[].display
Focal necrosis of right ventricular muscle cells

# concept[].display
increased amount of liquid in drinking regulation

# concept[].display
ventral horn of spinal cord spinal cord motor neuron

# concept[].display
epithelial cell of lower respiratory tract

# concept[].display
regulation of intracellular protein transport

# concept[].display
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes

# concept[].display
Abnormality of the vestibulocochlear nerve

# concept[].display
Aplasia/Hypoplasia involving the carpal bones

# concept[].display
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis

# concept[].display
positive regulation of cellular defense response

# concept[].display
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

# concept[].display
regulation of cilium-dependent cell motility

# concept[].display
dermis lymphatic vessel endothelial cell

# concept[].display
adhesion G protein-coupled receptor E1 (human)

# concept[].display
Multicentric ossification of proximal humeral epiphyses

# concept[].display
Slender long bones with narrow diaphyses

# concept[].display
regulation of killing of cells of other organism

# concept[].display
positive regulation of monocyte chemotaxis

# concept[].display
negative regulation of monocyte chemotaxis

# concept[].display
Erlenmeyer flask deformity of the femurs

# concept[].display
vesicle targeting, trans-Golgi to periciliary membrane compartment

# concept[].display
positive regulation of odontogenesis of dentin-containing tooth

# concept[].display
Arteriosclerosis of small cerebral arteries

# concept[].display
Abnormality of the pulmonary vasculature

# concept[].display
Right aortic arch with retroesophageal left subclavian artery

# concept[].display
Fragmentation of the epiphyses of the 4th finger

# concept[].display
Stippling of the epiphyses of the 5th finger

# concept[].display
Fragmentation of the epiphyses of the 5th finger

# concept[].display
positive regulation of cardiac muscle contraction

# concept[].display
positive regulation of digestive system process

# concept[].display
Rhomboid or triangular shaped 5th finger distal phalanx

# concept[].display
Triangular shaped phalanges of the 5th finger

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 5th finger

# concept[].display
Bullet-shaped phalanges of the 5th finger

# concept[].display
regulation of polysaccharide metabolic process

# concept[].display
Abnormality of the protein C anticoagulant pathway

# concept[].display
Increased circulating free fatty acid level

# concept[].display
Abnormality of the proximal phalanx of the 3rd finger

# concept[].display
Abnormality of the distal phalanx of the 3rd finger

# concept[].display
Triangular epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Small epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Ivory epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Irregular epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Bracket epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Absent epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Triangular epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Small epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Pseudoepiphysis of the distal phalanx of the 3rd finger

# concept[].display
Ivory epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Irregular epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Abnormality of the peripheral nervous system

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Enlarged epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Bracket epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Absent epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 3rd finger

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 3rd finger

# concept[].display
Triangular epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Small epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Pseudoepiphysis of the middle phalanx of the 3rd finger

# concept[].display
Ivory epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Irregular epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Enlarged epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Bracket epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Absent epiphysis of the middle phalanx of the 3rd finger

# concept[].display
Abnormality of the epiphyses of the 3rd finger

# concept[].display
plasma membrane bounded cell projection cytoplasm

# concept[].display
Symphalangism affecting the proximal phalanx of the 4th finger

# concept[].display
Patchy sclerosis of the proximal phalanx of the 4th finger

# concept[].display
Osteolytic defects of the proximal phalanx of the 4th finger

# concept[].display
Bullet-shaped proximal phalanx of the 4th finger

# concept[].display
Broad proximal phalanx of the 4th finger

# concept[].display
splanchnic layer of lateral plate mesoderm

# concept[].display
Triangular shaped middle phalanx of the 4th finger

# concept[].display
Symphalangism of middle phalanx of 4th finger

# concept[].display
Patchy sclerosis of the middle phalanx of the 4th finger

# concept[].display
Triangular shaped distal phalanx of the 4th finger

# concept[].display
Distal/middle symphalangism of 4th finger

# concept[].display
Patchy sclerosis of the distal phalanx of the 4th finger

# concept[].display
Bullet-shaped distal phalanx of the 4th finger

# concept[].display
Short proximal phalanx of the 4th finger

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the 4th finger

# concept[].display
positive regulation of somatic stem cell division

# concept[].display
positive regulation of testosterone secretion

# concept[].display
negative regulation of testosterone secretion

# concept[].display
positive regulation of steroid hormone secretion

# concept[].display
negative regulation of steroid hormone secretion

# concept[].display
Contracture of the proximal interphalangeal joint of the 2nd toe

# concept[].display
Contractures of the proximal interphalangeal joint of the 5th toe

# concept[].display
Contracture of the distal interphalangeal joint of the 4th toe

# concept[].display
Contractures of the distal interphalangeal joint of the 5th toe

# concept[].display
development of secondary male sexual characteristics

# concept[].display
development of secondary female sexual characteristics

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 3rd toe

# concept[].display
Premature epimetaphyseal fusion in fibula

# concept[].display
Premature epimetaphyseal fusion in tibia

# concept[].display
Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

# concept[].display
Aplasia/hypoplasia of the proximal phalanx of the 5th toe

# concept[].display
Aplasia of the distal phalanx of the 4th toe

# concept[].display
Aplasia of the middle phalanx of the 5th toe

# concept[].display
regulation of protein activation cascade

# concept[].display
cellular biogenic amine metabolic process

# concept[].display
regulation of cellular amine metabolic process

# concept[].display
negative regulation of cellular amine metabolic process

# concept[].display
programmed cell death involved in cell development

# concept[].display
negative regulation of blood coagulation, extrinsic pathway

# concept[].display
positive regulation of cellular amine metabolic process

# concept[].display
Aplasia/hypoplasia affecting bones of the axial skeleton

# concept[].display
negative regulation of animal organ morphogenesis

# concept[].display
decussation of superior cerebellar peduncle

# concept[].display
Tetralogy of Fallot with pulmonary atresia

# concept[].display
Chromosomal breakage induced by crosslinking agents

# concept[].display
Abnormality of the brainstem white matter

# concept[].display
Deficient excision of UV-induced pyrimidine dimers in DNA

# concept[].display
learning and/or memory behavior phenotype

# concept[].display
negative regulation of response to wounding

# concept[].display
positive regulation of response to wounding

# concept[].display
regulation of cellular amino acid metabolic process

# concept[].display
Abnormal central microtubular pair morphology of respiratory motile cilia

# concept[].display
Intermittent episodes of respiratory insufficiency due to muscle weakness

# concept[].display
metanephric nephron tubule epithelial cell

# concept[].display
Leakage of dye on fundus fluorescein angiography

# concept[].display
positive regulation of ATP metabolic process

# concept[].display
negative regulation of ATP metabolic process

# concept[].display
Loss of truncal subcutaneous adipose tissue

# concept[].display
positive regulation of protein localization to cilium

# concept[].display
regulation of protein localization to cilium

# concept[].display
Loss of gluteal subcutaneous adipose tissue

# concept[].display
Hypoplasia of maxilla relative to mandible

# concept[].display
positive regulation of extracellular exosome assembly

# concept[].display
negative regulation of extracellular exosome assembly

# concept[].display
regulation of extracellular exosome assembly

# concept[].display
high affinity immunoglobulin epsilon receptor subunit alpha (human)

# concept[].display
Increased anti-animal protein IgE antibody level

# concept[].display
Increased anti-seafood IgE antibody level

# concept[].display
Increased anti-dust mite IgE antibody level

# concept[].display
Increased anti-feather IgE antibody level

# concept[].display
Refractory anemia with ringed sideroblasts

# concept[].display
1st arch maxillary mesenchyme from neural crest

# concept[].display
negative regulation of secretion by cell

# concept[].display
Increased anti-nut food product IgE antibody level

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 4th finger

# concept[].display
negative regulation of blood circulation

# concept[].display
Osteolytic defects of the middle phalanx of the 4th finger

# concept[].display
Bullet-shaped middle phalanx of the 4th finger

# concept[].display
Aplasia of the distal phalanx of the 4th finger

# concept[].display
Increased circulating arachidonic acid level

# concept[].display
Anterior predominant thick cortex pachygyria

# concept[].display
Perisylvian predominant thick cortex pachygyria

# concept[].display
Sclerosis of the proximal phalanx of the hallux

# concept[].display
Abnormality of the proximal phalanx of the 4th finger

# concept[].display
Sclerosis of the distal phalanx of the 4th toe

# concept[].display
Abnormality of the distal phalanx of the 4th finger

# concept[].display
Posterior predominant thick cortex pachygyria

# concept[].display
Anterior predominant pachygyria with 5-10 mm cortical thickness

# concept[].display
Decreased circulating A-type natriuretic peptide level

# concept[].display
Increased circulating A-type natriuretic peptide level

# concept[].display
Abnormal A-type atrial natriuretic peptide level

# concept[].display
Sclerosis of the distal phalanx of the 2nd toe

# concept[].display
Sclerosis of the middle phalanx of the 5th toe

# concept[].display
Sclerosis of the middle phalanx of the 4th toe

# concept[].display
Sclerosis of the middle phalanx of the 3rd toe

# concept[].display
Contracture of the metacarpophalangeal joint of the 4th finger

# concept[].display
Contracture of the proximal interphalangeal joint of the 4th finger

# concept[].display
Contracture of the distal interphalangeal joint of the 4th finger

# concept[].display
Triangular epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells

# concept[].display
positive regulation of apoptotic process involved in development

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 4th finger

# concept[].display
Irregular epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Bracket epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Absent epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Triangular epiphysis of the distal phalanx of the 4th finger

# concept[].display
respiratory system arterial smooth muscle

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 4th finger

# concept[].display
Pseudoepiphysis of the distal phalanx of the 4th finger

# concept[].display
Ivory epiphysis of the distal phalanx of the 4th finger

# concept[].display
Sclerosis of the proximal phalanx of the thumb

# concept[].display
Sclerosis of the distal phalanx of the thumb

# concept[].display
Sclerosis of the proximal phalanx of the 5th finger

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 4th finger

# concept[].display
Bracket epiphysis of the distal phalanx of the 4th finger

# concept[].display
Absent epiphysis of the distal phalanx of the 4th finger

# concept[].display
Reduced response to gonadotropin-releasing hormone stimulation test

# concept[].display
Increased circulating adrenic acid concentration

# concept[].display
negative regulation of monooxygenase activity

# concept[].display
Sclerosis of the proximal phalanx of the 3rd finger

# concept[].display
Sclerosis of the proximal phalanx of the 2nd finger

# concept[].display
Sclerosis of the middle phalanx of the 5th finger

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 4th finger

# concept[].display
Aplasia of the distal phalanx of the 5th finger

# concept[].display
Triangular shaped distal phalanx of the 5th finger

# concept[].display
Sclerosis of the distal phalanx of the 4th finger

# concept[].display
Patchy sclerosis of the distal phalanx of the 5th finger

# concept[].display
Blood pressure substantially higher in upper than lower extremities

# concept[].display
Blood pressure substantially lower in upper than upper extremities

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 5th finger

# concept[].display
Rhomboid or triangular shaped 5th finger proximal phalanx

# concept[].display
Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

# concept[].display
Triangular shaped proximal phalanx of the 5th finger

# concept[].display
Symphalangism affecting the proximal phalanx of the 5th finger

# concept[].display
Patchy sclerosis of the proximal phalanx of the 5th finger

# concept[].display
Osteolytic defects of the proximal phalanx of the 5th finger

# concept[].display
Curved proximal phalanx of the 5th finger

# concept[].display
Bullet-shaped proximal phalanx of the 5th finger

# concept[].display
Broad proximal phalanx of the 5th finger

# concept[].display
Short proximal phalanx of the 5th finger

# concept[].display
Aplasia of the proximal phalanx of the 5th finger

# concept[].display
Triangular epiphysis of the middle phalanx of the 4th finger

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 4th finger

# concept[].display
Small epiphysis of the middle phalanx of the 4th finger

# concept[].display
Pseudoepiphysis of the middle phalanx of the 4th finger

# concept[].display
Ivory epiphysis of the middle phalanx of the 4th finger

# concept[].display
Irregular epiphysis of the middle phalanx of the 4th finger

# concept[].display
Enlarged epiphysis of the middle phalanx of the 4th finger

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 4th finger

# concept[].display
Bracket epiphysis of the middle phalanx of the 4th finger

# concept[].display
Absent epiphysis of the middle phalanx of the 4th finger

# concept[].display
Triangular epiphysis of the middle phalanx of the 5th finger

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 5th finger

# concept[].display
Small epiphysis of the middle phalanx of the 5th finger

# concept[].display
Pseudoepiphysis of the middle phalanx of the 5th finger

# concept[].display
Abnormal retinal nerve fiber layer morphology

# concept[].display
Abnormal CD4+CD25+ regulatory T cell proportion

# concept[].display
positive regulation of chemokine production

# concept[].display
Ivory epiphysis of the middle phalanx of the 5th finger

# concept[].display
Irregular epiphysis of the middle phalanx of the 5th finger

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 5th finger

# concept[].display
Enlarged epiphysis of the middle phalanx of the 5th finger

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 5th finger

# concept[].display
Bracket epiphysis of the middle phalanx of the 5th finger

# concept[].display
Absent epiphysis of the middle phalanx of the 5th finger

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 5th finger

# concept[].display
Partial duplication of the distal phalanx of the 5th toe

# concept[].display
Partial duplication of the proximal phalanx of the 4th toe

# concept[].display
Partial duplication of the proximal phalanx of the 5th toe

# concept[].display
Bullet-shaped middle phalanx of the 4th toe

# concept[].display
Bullet-shaped proximal phalanx of the 3rd toe

# concept[].display
Bullet-shaped proximal phalanx of the 4th toe

# concept[].display
positive regulation of insulin secretion

# concept[].display
Complete or near-complete absence of specific antibody response to tetanus vaccine

# concept[].display
Bullet-shaped distal phalanx of the 5th toe

# concept[].display
positive regulation of cardiac muscle cell differentiation

# concept[].display
negative regulation of cardiac muscle cell differentiation

# concept[].display
regulation of cardiac muscle cell differentiation

# concept[].display
Osteolytic defects of the middle phalanx of the 5th toe

# concept[].display
Osteolytic defects of the proximal phalanx of the 4th toe

# concept[].display
Osteolytic defects of the distal phalanx of the 3rd toe

# concept[].display
Decreased circulating level of specific antibody

# concept[].display
Osteolytic defects of the distal phalanx of the 5th toe

# concept[].display
Symphalangism affecting the middle phalanx of the 3rd toe

# concept[].display
Symphalangism affecting the middle phalanx of the 4th toe

# concept[].display
Symphalangism affecting the proximal phalanx of the 3rd toe

# concept[].display
Symphalangism affecting the proximal phalanx of the 5th toe

# concept[].display
Elevated circulating parathyroid hormone level

# concept[].display
Abnormal isoelectric focusing of serum transferrin

# concept[].display
Proximal/middle symphalangism of 4th toe

# concept[].display
positive regulation of neuromuscular synaptic transmission

# concept[].display
pronephric nephron tubule epithelial cell

# concept[].display
T-wave inversion in the right precordial leads

# concept[].display
Aplasia/Hypoplasia of the cerebral white matter

# concept[].display
Abnormality of peripheral nerve conduction

# concept[].display
Abnormality of the spinocerebellar tracts

# concept[].display
positive regulation of reactive oxygen species metabolic process

# concept[].display
Abnormal autonomic nervous system morphology

# concept[].designation[].value
integrin alpha-IIb, signal peptide removed form (human)

# concept[].display
partial seizure evolving to secondarily generalized seizure

# concept[].display
positive regulation of cholesterol metabolic process

# concept[].display
Abnormal carbon dioxide level in cord blood

# concept[].display
Abnormal urine sebacic acid concentration

# concept[].display
integrin alpha-IIb, signal peptide removed form

# concept[].display
Recurrent infection of the gastrointestinal tract

# concept[].display
Triangular epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Abnormal CSF pyruvate family amino acid concentration

# concept[].display
pectoral girdle and thoracic body wall skeletal muscle

# concept[].display
Anti-liver cytosolic antigen type 1 antibody positivity

# concept[].display
ZDHHC2 transfers PALM from PALM-CoA to CKAP4

# concept[].display
Paradoxical splitting of the second heart sound

# concept[].display
Abnormal renal collecting system morphology

# concept[].display
1st arch maxillary mesenchyme from head mesenchyme

# concept[].display
1st arch mandibular mesenchyme from head mesenchyme

# concept[].display
Mixed hypo- and hyperpigmentation of the skin

# concept[].display
Enteric intraneuronal nuclear inclusion bodies

# concept[].display
negative regulation of production of molecular mediator of immune response

# concept[].display
Duplication of bones involving the upper extremities

# concept[].display
Dilatation of Inferior mesenteric artery

# concept[].display
Dilatation of superior mesenteric artery

# concept[].display
Pseudoepiphysis of the distal phalanx of the 5th finger

# concept[].display
Contracture of the distal interphalangeal joint of the 5th finger

# concept[].display
Malignant neoplasm of the central nervous system

# concept[].display
Abnormality of the epiphyses of the 4th finger

# concept[].display
Patchy sclerosis of the middle phalanx of the 5th finger

# concept[].display
Osteolytic defects of the middle phalanx of the 5th finger

# concept[].display
Proximal/middle symphalangism of 5th finger

# concept[].display
Symphalangism of middle phalanx of 5th finger

# concept[].display
extracellular negative regulation of signal transduction

# concept[].display
negative regulation of chemokine production

# concept[].display
Bullet-shaped middle phalanx of the 5th finger

# concept[].display
Irregular epiphysis of the distal phalanx of the 5th finger

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 5th finger

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 5th finger

# concept[].display
Abnormal calcification of the carpal bones

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 5th finger

# concept[].display
Absent epiphysis of the proximal phalanx of the 5th finger

# concept[].display
urokinase plasminogen activator surface receptor (mouse)

# concept[].display
Small epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Ivory epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Abnormality of the epiphyses of the 5th finger

# concept[].display
Abnormality of the proximal phalanx of the 5th finger

# concept[].display
regulation of protein O-linked glycosylation

# concept[].display
Triangular shaped middle phalanx of the 5th finger

# concept[].display
Thickening of the glomerular basement membrane

# concept[].display
Triangular epiphysis of the distal phalanx of the 5th finger

# concept[].display
Small epiphysis of the distal phalanx of the 5th finger

# concept[].display
Enlarged epiphysis of the distal phalanx of the 5th finger

# concept[].display
Supernumerary bones of the axial skeleton

# concept[].display
Depletion of mitochondrial DNA in muscle tissue

# concept[].display
Synostosis involving bones of the lower limbs

# concept[].display
Abnormality of the musculature of the thorax

# concept[].display
metatarsophalangeal joint of pedal digit 1

# concept[].display
metatarsophalangeal joint of pedal digit 2

# concept[].display
Aplasia/Hypoplasia involving the musculature of the extremities

# concept[].display
Abnormality of the musculature of the limbs

# concept[].display
Bracket epiphysis of the distal phalanx of the 5th finger

# concept[].display
Aplasia/Hypoplasia of the frontal sinuses

# concept[].display
Aplasia/Hypoplasia involving bones of the skull

# concept[].display
Bracket epiphysis of the proximal phalanx of the 5th finger

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 5th finger

# concept[].display
Aplasia/Hypoplasia involving the femoral head and neck

# concept[].display
Abnormal ossification involving the femoral head and neck

# concept[].display
Prolonged need of intravenous antibiotic therapy

# concept[].display
Fragmentation of the metacarpal epiphyses

# concept[].display
regulation of Schwann cell differentiation

# concept[].display
pharyngeal arch mesenchyme from head mesenchyme

# concept[].display
muscle layer of infundibulum of uterine tube

# concept[].display
Contracture of the metacarpophalangeal joint of the 5th finger

# concept[].display
Abnormal morphology of the great vessels

# concept[].display
Delayed self-feeding during toddler years

# concept[].display
Hypoplasia of the capital femoral epiphysis

# concept[].display
Decreased sialylation of O-linked protein glycosylation

# concept[].display
respiratory system blood vessel endothelium

# concept[].display
Increased fucosylation of O-linked protein glycosylation

# concept[].display
Decreased fucosylation of O-linked protein glycosylation

# concept[].display
von Willebrand factor, signal peptide removed form (human)

# concept[].display
regulation of leukocyte mediated cytotoxicity

# concept[].display
Abnormality of intestinal smooth muscle morphology

# concept[].display
Aplasia/Hypoplasia of the proximal phalanx of the 5th finger

# concept[].display
Abnormal fucosylation of O-linked protein glycosylation

# concept[].display
Increased mannosylation of N-linked protein glycosylation

# concept[].display
Decreased mannosylation of N-linked protein glycosylation

# concept[].display
Abnormal mannosylation of N-linked protein glycosylation

# concept[].display
Increased fucosylation of N-linked protein glycosylation

# concept[].display
Decreased fucosylation of N-linked protein glycosylation

# concept[].display
Abnormal fucosylation of protein N-linked glycosylation

# concept[].display
Increased sialylation of N-linked protein glycosylation

# concept[].display
Decreased sialylation of N-linked protein glycosylation

# concept[].display
Abnormal sialylation of N-linked protein glycosylation

# concept[].display
Decreased galactosylation of N-linked protein glycosylation

# concept[].display
positive regulation of animal organ morphogenesis

# concept[].display
Exaggerated rugosity of the labia majora

# concept[].display
Abnormal autonomic nervous system physiology

# concept[].display
Liver kidney microsome type 1 antibody positivity

# concept[].display
Abnormal CSF glutamine family amino acid concentration

# concept[].display
effector CD8-positive, alpha-beta T cell

# concept[].display
Abnormal CSF branched chain amino acid concentration

# concept[].display
Abnormal CSF carboxylic acid concentration

# concept[].display
effector CD4-positive, alpha-beta T cell

# concept[].display
Bowing of limbs due to multiple fractures

# concept[].display
positive regulation of response to nutrient levels

# concept[].display
Abnormal concentration of acylcarnitine in the urine

# concept[].display
Coarctation of the descending aortic arch

# concept[].display
CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor

# concept[].display
Abnormal circulating aspartic acid concentration

# concept[].display
Medial calcification of medium-sized arteries

# concept[].display
positive regulation of intracellular protein transport

# concept[].display
CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor

# concept[].display
Kit and Sca1-positive hematopoietic stem cell

# concept[].display
Complete or near-complete absence of specific antibody response to pneumococcus vaccine

# concept[].display
Partial absence of specific antibody response to pneumococcus vaccine

# concept[].display
Decreased specific antibody response to protein-conjugated polysaccharide vaccine

# concept[].display
Partial absence of specific antibody response to meningococcus vaccine

# concept[].display
Decreased specific antibody response to infection

# concept[].display
reactive oxygen species metabolic process

# concept[].display
Decreased cervical spine flexion due to contractures of posterior cervical muscles

# concept[].display
Anterior concavity of thoracic vertebrae

# concept[].display
Irregular epiphysis of the distal phalanx of the 4th finger

# concept[].display
Anterior beaking of lower thoracic vertebrae

# concept[].display
Small epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Elevated proportion of CD4+CD25+ regulatory T cells

# concept[].display
Reduced proportion of CD4+CD25+ regulatory T cells

# concept[].display
Focal epithelial hyperplasia of oral mucosa

# concept[].display
Abnormal circulating heparan sulfate level

# concept[].display
Increased circulating heparan sulfate level

# concept[].display
Abnormality of vertebral epiphysis morphology

# concept[].display
Abnormal tubular basement membrane morphology

# concept[].display
Thickening of the tubular basement membrane

# concept[].display
Loss of subcutaneous adipose tissue from upper limbs

# concept[].display
negative regulation of execution phase of apoptosis

# concept[].display
positive regulation of execution phase of apoptosis

# concept[].display
regulation of apoptotic process involved in development

# concept[].display
Decreased monosialylated core 1 O-glycan level

# concept[].display
positive regulation of establishment of protein localization

# concept[].display
negative regulation of establishment of protein localization

# concept[].display
Increased hepatitis C virus antibody level

# concept[].display
Abnormal proportion of naive CD4 T cells

# concept[].display
Progressive loss of facial adipose tissue

# concept[].display
Abnormal proportion of naive CD8 T cells

# concept[].display
Elevated proportion of naive CD8 T cells

# concept[].display
EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor

# concept[].display
Abnormal response to short acting pulmonary vasodilator

# concept[].display
Hyperintensity of cerebral white matter on MRI

# concept[].display
Pachygyria with 5-10 mm cortical thickness

# concept[].display
Abnormal proportion of central memory CD4-positive, alpha-beta T cells

# concept[].display
Interlobular septal thickening on pulmonary HRCT

# concept[].display
Abnormality on pulmonary function testing

# concept[].display
Increased pulmonary capillary wedge pressure

# concept[].display
Increased proportion of central memory CD4-positive, alpha-beta T cells

# concept[].display
Increased proportion of effector memory CD8-positive, alpha-beta T cells

# concept[].display
Aplasia of the abdominal wall musculature

# concept[].display
Autosomal dominant inheritance with maternal imprinting

# concept[].display
Autosomal dominant inheritance with paternal imprinting

# concept[].display
Increased carotid artery intimal medial thickness

# concept[].display
Absent respiratory ciliary axoneme radial spokes

# concept[].display
Absent central microtubular pair morphology of respiratory motile cilia

# concept[].display
Abnormal respiratory motile cilium physiology

# concept[].display
skeletal muscle tissue of rectus abdominis

# concept[].display
negative regulation of cytokine production

# concept[].display
Increased cellular sensitivity to UV light

# concept[].display
Abnormal axonemal organization of respiratory motile cilia

# concept[].display
Dynein arm defect of respiratory motile cilia

# concept[].display
skeletal muscle tissue of biceps brachii

# concept[].display
Abnormality of the somatic nervous system

# concept[].display
Gonadal tissue inappropriate for external genitalia or chromosomal sex

# concept[].display
negative regulation of plasma membrane bounded cell projection assembly

# concept[].display
Reduced orotidine 5-prime phosphate decarboxylase activity

# concept[].display
Entrapment neuropathy of suprascapular nerve

# concept[].display
Abnormality of ganglion of peripheral nervous system

# concept[].display
regulation of cellular response to stress

# concept[].display
EEG with centrotemporal focal spike waves

# concept[].display
Absent or minimally ossified vertebral bodies

# concept[].display
Hump-shaped mound of bone in central and posterior portions of vertebral endplate

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the hallux

# concept[].display
T-cell surface glycoprotein CD8 alpha chain isoform 1 (human)

# concept[].display
alkaline phosphatase, placental type (human)

# concept[].display
Nasolacrimal sac epithelial papillary carcinoma

# concept[].display
Hypoplasia of the musculature of the pelvis

# concept[].display
Osteolytic defects of the distal phalanx of the 4th finger

# concept[].display
Abnormality of the curvature of the cornea

# concept[].display
MscR reduces nitrosomycothiol to ammonia

# concept[].designation[].value
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor

# concept[].display
Large clumps of pigment irregularly distributed along hair shaft

# concept[].display
embryonic blood vessel endothelial progenitor cell

# concept[].display
chorionic membrane mesenchymal stem cell

# concept[].display
mesenchymal stem cell of the bone marrow

# concept[].display
Abnormal pigmentation of the oral mucosa

# concept[].display
pedal digit 4 metatarsal cartilage element

# concept[].display
pedal digit 5 metatarsal cartilage element

# concept[].display
manual digit 2 metacarpus cartilage element

# concept[].display
manual digit 3 metacarpus cartilage element

# concept[].display
negative regulation of cytokine-mediated signaling pathway

# concept[].display
Aplasia/Hypoplasia of the phalanges of the toes

# concept[].display
pedal digit 2 phalanx pre-cartilage condensation

# concept[].display
pedal digit 3 phalanx pre-cartilage condensation

# concept[].display
pedal digit 4 phalanx pre-cartilage condensation

# concept[].display
pedal digit 5 phalanx pre-cartilage condensation

# concept[].display
oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor

# concept[].display
Orthostatic hypotension due to autonomic dysfunction

# concept[].display
negative regulation of cellular protein localization

# concept[].display
negative regulation of response to extracellular stimulus

# concept[].display
positive regulation of defense response to bacterium

# concept[].display
negative regulation of cellular respiration

# concept[].display
skeletal muscle tissue of tibialis anterior

# concept[].display
skeletal muscle tissue of quadriceps femoris

# concept[].display
positive regulation of lymphocyte apoptotic process

# concept[].display
regulation of morphogenesis of an epithelium

# concept[].display
cardiac muscle tissue of interatrial septum

# concept[].display
Extracranial internal carotid artery dissection

# concept[].display
auditory hillocks, pharyngeal arch 2 derived

# concept[].display
positive regulation of peroxidase activity

# concept[].display
Abnormality of the bed nucleus of stria terminalis

# concept[].display
negative regulation of peroxidase activity

# concept[].display
negative regulation of Schwann cell differentiation

# concept[].display
Modic type III vertebral endplate changes

# concept[].display
Modic type II vertebral endplate changes

# concept[].display
cobalamin binding intrinsic factor (human)

# concept[].display
Abnormality of depressor anguli oris muscle

# concept[].display
proximal epiphysis of proximal phalanx of manual digit 1

# concept[].display
proximal epiphysis of distal phalanx of manual digit 1

# concept[].display
proximal epiphysis of proximal phalanx of manual digit 5

# concept[].display
proximal epiphysis of proximal phalanx of manual digit 4

# concept[].display
proximal epiphysis of proximal phalanx of manual digit 3

# concept[].display
proximal epiphysis of proximal phalanx of manual digit 2

# concept[].display
G protein-coupled receptor signaling pathway involved in heart process

# concept[].display
proximal epiphysis of middle phalanx of manual digit 4

# concept[].display
proximal epiphysis of middle phalanx of manual digit 2

# concept[].display
proximal epiphysis of distal phalanx of manual digit 5

# concept[].display
proximal epiphysis of distal phalanx of manual digit 4

# concept[].display
proximal epiphysis of distal phalanx of manual digit 3

# concept[].display
proximal epiphysis of fourth metatarsal bone

# concept[].display
negative regulation of macromolecule metabolic process

# concept[].display
proximal epiphysis of second metatarsal bone

# concept[].display
proximal epiphysis of first metatarsal bone

# concept[].display
Abnormal greater palatine artery morphology

# concept[].display
proximal epiphysis of fourth metacarpal bone

# concept[].display
proximal epiphysis of second metacarpal bone

# concept[].display
proximal epiphysis of first metacarpal bone

# concept[].display
proximal epiphysis of phalanx of manual digit 4

# concept[].display
Grade II preterm intraventricular hemorrhage

# concept[].display
Grade I preterm intraventricular hemorrhage

# concept[].display
Hyaloid vascular remnant and retrolental mass

# concept[].display
Glial remnants anterior to the optic disc

# concept[].display
Anomalous muscle bundle of the right ventricle

# concept[].display
proximal epiphysis of phalanx of manual digit 1

# concept[].display
positive regulation of vitamin metabolic process

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 4th finger

# concept[].display
Abnormal mandible coronoid process morphology

# concept[].display
Abnormal number of granulocyte precursors

# concept[].display
Abnormal erythroid lineage cell morphology

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 5th toe

# concept[].display
Abnormality of urinary uric acid concentration

# concept[].display
Abnormality of peripheral nervous system electrophysiology

# concept[].display
Abnormality of bone marrow stromal cells

# concept[].display
manual digit 5 phalanx endochondral element

# concept[].display
Abnormality of circulating glucocorticoid level

# concept[].display
pedal digit 3 metatarsal endochondral element

# concept[].display
Pigment deposition in the trabecular meshwork

# concept[].display
positive regulation of cellular carbohydrate metabolic process

# concept[].display
Abnormality of nervous system morphology

# concept[].display
regulation of purine nucleobase metabolic process

# concept[].display
regulation of nucleotide metabolic process

# concept[].display
pedal digit 5 metatarsal endochondral element

# concept[].display
manual digit metacarpus endochondral element

# concept[].display
manual digit 1 metacarpus endochondral element

# concept[].display
manual digit 2 metacarpus endochondral element

# concept[].display
manual digit 3 metacarpus endochondral element

# concept[].display
Decreased number of large peripheral myelinated nerve fibers

# concept[].display
Abnormal synaptic transmission at the neuromuscular junction

# concept[].display
Abnormal brain positron emission tomography

# concept[].display
Abnormal brain FDG positron emission tomography

# concept[].display
Chronic rhinitis due to narrow nasal airway

# concept[].display
positive regulation of cellular respiration

# concept[].display
regulation of carbohydrate metabolic process

# concept[].display
negative regulation of cholesterol metabolic process

# concept[].display
proximal carpal bone pre-cartilage condensation

# concept[].display
Aplasia cutis congenita over the scalp vertex

# concept[].display
Prolonged brainstem auditory evoked potentials

# concept[].display
distal carpal bone 3 pre-cartilage condensation

# concept[].display
distal carpal bone 4 endochondral element

# concept[].display
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen

# concept[].designation[].value
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen

# concept[].designation[].value
ALOX12:Fe2+ oxidises DHA to 14(S)-Hp-DHA

# concept[].designation[].value
Ac-PTGS2 dimer oxidises EPA to 18(R)-HpEPE or 18(S)-HpEPE

# concept[].designation[].value
PTGS2 dimer oxidises DPAn-3 to 13(R)-HDPAn-3

# concept[].designation[].value
BCO2:Fe2+ cleaves betaC to APO10al and bION

# concept[].designation[].value
ALOX5 oxidises 15R-HETE to 15epi-LXA4/B4

# concept[].display
Exostosis of the external auditory canal

# concept[].display
development of secondary sexual characteristics

# concept[].display
Small epiphysis of the distal phalanx of the 4th finger

# concept[].display
Osteolytic defects of the distal phalanx of the 3rd finger

# concept[].display
blood coagulation, fibrin clot formation

# concept[].display
oxidoreductase activity, acting on CH or CH2 groups, NAD or NADP as acceptor

# concept[].display
interleukin-2 receptor subunit beta (mouse)

# concept[].display
Bullet-shaped middle phalanx of the 3rd finger

# concept[].display
Osteolytic defects of the middle phalanx of the 3rd finger

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 3rd finger

# concept[].display
Ivory epiphysis of the proximal phalanx of the 4th finger

# concept[].display
Broad proximal phalanx of the 3rd finger

# concept[].display
Curved proximal phalanx of the 3rd finger

# concept[].display
Osteolytic defects of the proximal phalanx of the 3rd finger

# concept[].display
Agenesis of permanent maxillary lateral incisor

# concept[].display
Contracture of the distal interphalangeal joint of the 3rd finger

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 4th finger

# concept[].display
positive regulation of inflammatory response

# concept[].display
Contracture of the metacarpophalangeal joint of the 3rd finger

# concept[].display
positive regulation of intracellular transport

# concept[].display
negative regulation of intracellular transport

# concept[].display
Abnormality of permanent molar morphology

# concept[].display
Unknown pPPP phosphatase dephosphorylates pPPP to pPNOL

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 4th finger

# concept[].display
Abnormal common carotid artery morphology

# concept[].display
Abnormality of levator labii superioris alaeque nasi muscle

# concept[].display
negative regulation of apoptotic process involved in development

# concept[].display
positive regulation of homocysteine metabolic process

# concept[].display
negative regulation of reactive oxygen species metabolic process

# concept[].display
regulation of reactive oxygen species metabolic process

# concept[].display
Incomplete ossification of palatine bone

# concept[].display
positive regulation of necrotic cell death

# concept[].display
signal transduction involved in regulation of gene expression

# concept[].display
Benign neoplasm of the central nervous system

# concept[].display
Abnormality of circulating catecholamine level

# concept[].display
Abnormality of exocrine pancreas physiology

# concept[].display
regulation of cell population proliferation

# concept[].display
negative regulation of phosphatase activity

# concept[].display
positive regulation of phosphatase activity

# concept[].designation[].value
T-cell surface glycoprotein CD8 beta chain, signal peptide removed form (human)

# concept[].display
Incomplete congenital stationary night blindness

# concept[].display
CD44 antigen, signal peptide removed form (human)

# concept[].display
Urinary excretion of sialylated oligosaccharides

# concept[].display
Congenital stationary night blindness with abnormal fundus

# concept[].display
Retinal dystrophy with early macular involvement

# concept[].display
Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence

# concept[].display
Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence

# concept[].designation[].value
T-cell surface glycoprotein CD3 epsilon chain, signal peptide removed form (human)

# concept[].designation[].value
myeloid cell surface antigen CD33, signal peptide removed form (human)

# concept[].display
Foveal subretinal hyporeflective spaces on macular OCT

# concept[].display
Foveal hyporeflective spaces on macular OCT

# concept[].display
Subretinal hyporeflective spaces on macular OCT

# concept[].display
Intraretinal hyporeflective spaces on macular OCT

# concept[].display
Foveal inner retinal layer loss on macular OCT

# concept[].display
distal tarsal bone 1 pre-cartilage condensation

# concept[].display
Foveal retinal pigment epithelial loss on macular OCT

# concept[].display
Foveal photoreceptor outer segment loss on macular OCT

# concept[].display
Foveal photoreceptor layer loss on macular OCT

# concept[].display
Abnormal retinal morphology on macular OCT

# concept[].display
Retinal pigment epithelial loss on macular OCT

# concept[].display
Photoreceptor outer segment loss on macular OCT

# concept[].display
Abnormal brain choline/creatine ratio by MRS

# concept[].display
B-lymphocyte antigen CD19, signal peptide removed form (human)

# concept[].display
Increased rate of premature chromosome condensation

# concept[].display
Low urinary cyclic AMP response to PTH administration

# concept[].display
Morphological abnormality of the gastrointestinal tract

# concept[].display
C-C chemokine receptor type 7, signal peptide removed form (human)

# concept[].display
Pseudoepiphyses of the phalanges of the hand

# concept[].display
Fusiform descending thoracic aortic aneurysm

# concept[].display
Saccular descending thoracic aortic aneurysm

# concept[].display
positive regulation of blood coagulation

# concept[].display
interleukin-5 receptor subunit alpha (mouse)

# concept[].display
Abnormal basal ganglia MRI signal intensity

# concept[].display
Focal T2 hypointense basal ganglia lesion

# concept[].display
regulation of response to external stimulus

# concept[].display
network of trabecular spaces in bone tissue

# concept[].display
receptor-type tyrosine-protein phosphatase C isoform 1 (human)

# concept[].display
Abnormality of alkaline phosphatase activity

# concept[].display
Small epiphyses of the phalanges of the hand

# concept[].display
Abnormality of enteric ganglion morphology

# concept[].display
regulation of cardiac muscle contraction

# concept[].display
negative regulation of cardiac muscle contraction

# concept[].display
Bracket epiphysis of the distal phalanx of the 2nd finger

# concept[].display
negative regulation of isoprenoid metabolic process

# concept[].display
positive regulation of chemokine secretion

# concept[].display
Abnormality of the vitamin B3 metabolism

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 2nd finger

# concept[].display
Joint contractures involving the joints of the feet

# concept[].display
Ivory epiphysis of the middle phalanx of the 2nd finger

# concept[].display
4-imidazolone-5-propionate + H2O => N-formiminoglutamate + 2H+

# concept[].designation[].value
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides

# concept[].display
Proximal/middle symphalangism of 2nd toe

# concept[].display
Synostosis of the proximal phalanx of the hallux with the 1st metatarsal

# concept[].display
Triangular shaped distal phalanx of the 5th toe

# concept[].display
Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal

# concept[].display
Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal

# concept[].display
Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal

# concept[].display
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal

# concept[].display
Proximal/middle symphalangism of 5th toe

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Irregular epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Abnormal circulating sulfur amino acid concentration

# concept[].display
Abnormal circulating aromatic amino acid concentration

# concept[].display
Symphalangism affecting the distal phalanx of the 5th toe

# concept[].display
Symphalangism affecting the distal phalanx of the 4th toe

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
Symphalangism affecting the proximal phalanx of the 4th toe

# concept[].display
Symphalangism affecting the middle phalanx of the 5th toe

# concept[].display
Abnormal posterior eye segment morphology

# concept[].display
Abnormal anterior eye segment morphology

# concept[].display
CD56-negative, CD161-positive immature natural killer cell

# concept[].display
positive regulation of leukocyte cell-cell adhesion

# concept[].display
negative regulation of leukocyte cell-cell adhesion

# concept[].display
regulation of leukocyte cell-cell adhesion

# concept[].display
Patchy sclerosis of the distal phalanx of the 5th toe

# concept[].display
Patchy sclerosis of the distal phalanx of the 4th toe

# concept[].display
Patchy sclerosis of the distal phalanx of the 3rd toe

# concept[].display
Patchy sclerosis of the proximal phalanx of the 5th toe

# concept[].display
Patchy sclerosis of the proximal phalanx of the 4th toe

# concept[].display
Patchy sclerosis of the proximal phalanx of the 3rd toe

# concept[].display
Patchy sclerosis of the middle phalanx of the 5th toe

# concept[].display
Patchy sclerosis of the middle phalanx of the 4th toe

# concept[].display
Patchy sclerosis of the middle phalanx of the 3rd toe

# concept[].display
CD56-positive, CD161-positive immature natural killer cell

# concept[].display
Osteolytic defects of the distal phalanx of the 4th toe

# concept[].display
Osteolytic defects of the proximal phalanx of the 5th toe

# concept[].display
Osteolytic defects of the proximal phalanx of the 3rd toe

# concept[].display
positive regulation of glycoprotein metabolic process

# concept[].display
Osteolytic defects of the middle phalanx of the 3rd toe

# concept[].display
CD3 epsilon, signal peptide removed form

# concept[].display
Abnormality of cartilage of external ear

# concept[].display
negative regulation of glycoprotein metabolic process

# concept[].display
Osteolytic defects of the distal phalanx of the 2nd finger

# concept[].display
Patchy sclerosis of the distal phalanx of the 2nd finger

# concept[].display
Focal autonomic seizures without altered responsiveness

# concept[].display
Triangular shaped distal phalanx of the 2nd finger

# concept[].display
Bullet-shaped distal phalanx of the 4th toe

# concept[].display
Bullet-shaped distal phalanx of the 3rd toe

# concept[].display
T-cell surface glycoprotein CD8 beta chain, signal peptide removed form

# concept[].display
endocrine-paracrine cell of prostate gland

# concept[].display
axon ensheathment in central nervous system

# concept[].display
Bullet-shaped proximal phalanx of the 5th toe

# concept[].display
Patchy sclerosis of the middle phalanx of the 2nd finger

# concept[].display
Bullet-shaped middle phalanx of the 3rd toe

# concept[].display
peripheral nervous system myelin maintenance

# concept[].display
central nervous system myelin maintenance

# concept[].display
positive regulation of protein secretion

# concept[].display
Partial duplication of the proximal phalanx of the 3rd toe

# concept[].display
Partial duplication of the middle phalanx of the 4th toe

# concept[].display
cell-cell signaling involved in mammary gland development

# concept[].display
Partial duplication of the middle phalanx of the 3rd toe

# concept[].display
Focal epileptiform discharges with limited propagation to contralateral hemisphere

# concept[].display
Focal EEG discharges with propagation to ipsilateral hemisphere

# concept[].display
Focal EEG discharges with secondary generalization

# concept[].display
Complete duplication of the proximal phalanx of the 3rd toe

# concept[].display
Complete duplication of the middle phalanx of the 5th toe

# concept[].display
Complete duplication of the middle phalanx of the 4th toe

# concept[].display
Complete duplication of the middle phalanx of the 3rd toe

# concept[].display
Mixed respiratory and metabolic acidosis

# concept[].display
regulation of cellular protein metabolic process

# concept[].display
negative regulation of somatic stem cell division

# concept[].display
Uni- and bilateral multifocal epileptiform discharges

# concept[].display
Complete duplication of the distal phalanx of the 5th toe

# concept[].display
Duplication of the proximal phalanx of the 4th toe

# concept[].display
Duplication of the proximal phalanx of the 3rd toe

# concept[].display
Duplication of the middle phalanx of the 5th toe

# concept[].display
Duplication of the middle phalanx of the 4th toe

# concept[].display
Duplication of the distal phalanx of the 5th toe

# concept[].display
respiratory system blood vessel smooth muscle

# concept[].display
positive regulation of flagellated sperm motility involved in capacitation

# concept[].display
regulation of apoptosis involved in tissue homeostasis

# concept[].display
Sclerosis of the distal phalanx of the 2nd finger

# concept[].display
Sclerosis of the distal phalanx of the 3rd finger

# concept[].display
regulation of arginine metabolic process

# concept[].display
positive regulation of signaling receptor activity

# concept[].display
negative regulation of signaling receptor activity

# concept[].display
positive regulation of synaptic transmission

# concept[].display
negative regulation of synaptic transmission

# concept[].display
fourth ventricle choroid plexus epithelium

# concept[].display
third ventricle choroid plexus epithelium

# concept[].display
lateral ventricle choroid plexus epithelium

# concept[].display
Abnormal epiphysis morphology of the phalanges of the hand

# concept[].display
Abnormal Humphrey SITA 24-2 perimetry test

# concept[].display
positive regulation of blood coagulation, intrinsic pathway

# concept[].display
negative regulation of blood coagulation, intrinsic pathway

# concept[].display
regulation of blood coagulation, intrinsic pathway

# concept[].display
positive regulation of blood coagulation, extrinsic pathway

# concept[].display
regulation of blood coagulation, extrinsic pathway

# concept[].display
positive regulation of blood coagulation, common pathway

# concept[].display
negative regulation of blood coagulation, common pathway

# concept[].display
regulation of blood coagulation, common pathway

# concept[].display
Abnormal confrontational visual field test

# concept[].display
positive regulation of protein activation cascade

# concept[].display
negative regulation of protein activation cascade

# concept[].display
Sclerosis of the proximal phalanx of the 2nd toe

# concept[].display
Sclerosis of the proximal phalanx of the 3rd toe

# concept[].display
Sclerosis of the proximal phalanx of the 4th toe

# concept[].display
Sclerosis of the proximal phalanx of the 5th toe

# concept[].display
positive regulation of reproductive process

# concept[].display
negative regulation of reproductive process

# concept[].display
Sclerosis of the distal phalanx of the 3rd toe

# concept[].display
Sclerosis of the distal phalanx of the 5th toe

# concept[].display
cilium or flagellum-dependent cell motility

# concept[].display
proximal epiphysis of third metacarpal bone

# concept[].display
Birth length greater than 97th percentile

# concept[].display
positive regulation of proline metabolic process

# concept[].display
negative regulation of proline metabolic process

# concept[].display
epithelium of terminal part of digestive tract

# concept[].display
muscle tissue of terminal part of digestive tract

# concept[].display
regulation of glucose transmembrane transport

# concept[].display
positive regulation of glucose transmembrane transport

# concept[].display
negative regulation of glucose transmembrane transport

# concept[].display
Increased serum iduronate sulfatase activity

# concept[].display
negative regulation of mitochondrial translation

# concept[].display
Very severe constriction of peripheral visual field

# concept[].display
positive regulation of mitochondrial translation

# concept[].display
proximal epiphysis of fifth metatarsal bone

# concept[].display
Mild constriction of peripheral visual field

# concept[].display
proximal epiphysis of distal phalanx of manual digit 2

# concept[].display
proximal epiphysis of middle phalanx of manual digit 3

# concept[].display
Difficulty adjusting to changes in luminance

# concept[].display
Combined hamartoma of the retinal pigment epithelium and retina

# concept[].display
positive regulation of hormone secretion

# concept[].display
myeloid cell surface antigen CD33 (mouse)

# concept[].display
Grouped congenital hypertrophy of retinal pigment epithelium

# concept[].display
Chronic neutropenia in myeloid maturation arrest in bone marrow

# concept[].display
cell surface glycoprotein CD200 receptor 3 (mouse)

# concept[].display
positive regulation of steroid biosynthetic process

# concept[].display
negative regulation of steroid biosynthetic process

# concept[].display
Subluxation of metacarpal phalangeal joints

# concept[].display
Sclerosis of hand bones with transverse striations

# concept[].display
ligase activity, forming carbon-carbon bonds

# concept[].display
Subluxation of the small joints of the hand

# concept[].display
Osteoarthritis of the small joints of the hand

# concept[].display
respiratory gaseous exchange by respiratory system

# concept[].display
Abnormal upper-limb motor evoked potentials

# concept[].display
Delayed ossification of the trapezoid bone

# concept[].display
Duplication of the distal phalanx of the 3rd toe

# concept[].display
EEG with generalized slow activity grade 3

# concept[].designation[].value
racemase and epimerase activity, acting on carbohydrates and derivatives

# concept[].display
Aplasia of the proximal phalanges of the toes

# concept[].display
TSTA3 dimer epimerises GDP-DHDMan to GDP-KDGal

# concept[].display
Aplasia of the proximal phalanx of the 4th toe

# concept[].display
Aplasia of the middle phalanx of the 4th toe

# concept[].display
Aplasia of the distal phalanx of the 5th toe

# concept[].display
Bone-in-a-bone appearance of carpal bones

# concept[].display
Subluxation of the proximal interphalangeal joint of the little finger

# concept[].display
Aplasia/hypoplasia of the proximal phalanx of the 4th toe

# concept[].display
Triangular shaped proximal phalanx of the thumb

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 3rd toe

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 5th toe

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 4th toe

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 5th finger

# concept[].display
Ivory epiphysis of the distal phalanx of the 5th finger

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 5th finger

# concept[].display
2-hydroxyphytanoyl-CoA => pristanal + formyl-CoA

# concept[].display
Abnormality of the middle phalanx of the 5th finger

# concept[].display
Osteolytic defects of the phalanges of the 5th finger

# concept[].display
positive regulation of cellular protein metabolic process

# concept[].designation[].value
TYW1:FMN:4Fe-4S  transforms 1-methylguanosine yielding yW-187 (4-demethylwyosine) at nucleotide 37 of tRNA(Phe)

# concept[].display
Contracture of the metatarsophalangeal joint of the 5th toe

# concept[].display
Contracture of the metatarsophalangeal joint of the 4th toe

# concept[].display
Contracture of the metatarsophalangeal joint of the 3rd toe

# concept[].display
Contracture of the metatarsophalangeal joint of the 2nd toe

# concept[].display
Contracture of the distal interphalangeal joint of the 3rd toe

# concept[].display
Contracture of the distal interphalangeal joint of the 2nd toe

# concept[].display
Contracture of the proximal interphalangeal joint of the 4th toe

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the hallux

# concept[].display
NAAA hydrolyses NAEs to FAs and ethanolamine

# concept[].designation[].value
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds

# concept[].display
Partial absence of specific antibody response to hepatitis B vaccine

# concept[].display
Radial deviation of thumb terminal phalanx

# concept[].display
peripheral nervous system myelin formation

# concept[].display
peripheral nervous system axon ensheathment

# concept[].display
Small epiphysis of the proximal phalanx of the thumb

# concept[].designation[].value
interleukin-2 receptor subunit alpha, signal peptide removed form (human)

# concept[].display
interleukin-2 receptor subunit alpha, signal peptide removed form

# concept[].display
regulation of steroid biosynthetic process

# concept[].display
epithelial cell of tracheobronchial tree

# concept[].designation[].value
natural killer cell receptor 2B4, signal peptide removed form (human)

# concept[].display
CD27 antigen, signal peptide removed form (human)

# concept[].display
Recurrent mycobacterium avium complex infections

# concept[].display
Abnormality of the urinary system physiology

# concept[].display
Enlarged sagittal diameter of the cervical canal

# concept[].display
T-cell surface glycoprotein CD3 epsilon chain (mouse)

# concept[].display
Abnormality of urine calcium concentration

# concept[].display
Abnormality of urine catecholamine concentration

# concept[].designation[].value
interleukin-5 receptor subunit alpha, signal peptide removed form (human)

# concept[].display
Muscle fiber intranuclear inclusion bodies

# concept[].display
Muscle fiber cytoplasmatic inclusion bodies

# concept[].display
negative regulation of inflammatory response

# concept[].display
Calcific stippling of infantile cartilaginous skeleton

# concept[].display
Abnormality of the middle phalanx of the 4th finger

# concept[].display
negative regulation of blood vessel morphogenesis

# concept[].display
positive regulation of cytokine secretion

# concept[].display
negative regulation of cytokine secretion

# concept[].display
Curved proximal phalanx of the 4th finger

# concept[].display
negative regulation of T cell activation

# concept[].display
negative regulation of protein secretion

# concept[].designation[].value
T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form (human)

# concept[].display
Abnormality morphology of the macular vasculature

# concept[].display
generation of precursor metabolites and energy

# concept[].display
Abnormal central response of multifocal electroretinogram

# concept[].display
Abnormal P50/N95 ratio of pattern electroretinogram

# concept[].display
Abnormal timing of pattern electroretinogram

# concept[].display
positive regulation of cilium-dependent cell motility

# concept[].display
Abnormal amplitude of light-adapted single flash electroretinogram

# concept[].display
Abnormal timing of light-adapted flicker electroretinogram

# concept[].display
negative regulation of response to nutrient levels

# concept[].display
positive regulation of response to extracellular stimulus

# concept[].display
regulation of response to extracellular stimulus

# concept[].display
negative regulation of response to external stimulus

# concept[].display
Abnormal amplitude of dark-adapted bright flash electroretinogram

# concept[].display
Abnormal timing of dark-adapted bright flash electroretinogram

# concept[].display
Abnormal amplitude of dark-adapted dim flash electroretinogram

# concept[].display
positive regulation of sulfur amino acid metabolic process

# concept[].display
Asymmetrical distribution of pattern reversal visual evoked potentials

# concept[].display
Asymmetrical distribution of flash visual evoked potentials

# concept[].display
Abnormal amplitude of flash visual evoked potentials

# concept[].display
Abnormal timing of flash visual evoked potentials

# concept[].display
Abnormal timing of pattern reversal visual evoked potentials

# concept[].display
anatomical point connecting sagittal and lambdoidal sutures

# concept[].display
Loss of ability to walk in early childhood

# concept[].display
Abnormality of the fifth metatarsal bone

# concept[].display
Abnormal timing of pattern onset/offset visual evoked potentials

# concept[].display
Abnormal amplitude of pattern onset/offset visual evoked potentials

# concept[].display
Abnormality of pattern onset/offset visual evoked potentials

# concept[].display
Abnormality of pattern visual evoked potentials

# concept[].display
Neuroplasm of the autonomic nervous system

# concept[].display
negative regulation of cellular macromolecule biosynthetic process

# concept[].display
regulation of cellular macromolecule biosynthetic process

# concept[].display
positive regulation of leukocyte apoptotic process

# concept[].display
negative regulation of leukocyte apoptotic process

# concept[].display
regulation of leukocyte apoptotic process

# concept[].display
Increased serum mast cell beta-tryptase concentration

# concept[].display
cellular component assembly involved in morphogenesis

# concept[].display
Skin dimple over apex of long bone angulation

# concept[].display
negative regulation of cell cycle process

# concept[].display
Abnormal platelet dense granule ATP/ADP ratio

# concept[].display
positive regulation of circadian sleep/wake cycle, REM sleep

# concept[].display
Increased level of 3-hydroxy-3-methylglutaric acid in urine

# concept[].display
Cytochrome C oxidase-negative muscle fibers

# concept[].display
Osteolytic defects of the phalanges of the 4th finger

# concept[].display
Morphological abnormality of the central nervous system

# concept[].designation[].value
hydrolase activity, acting on glycosyl bonds

# concept[].display
Anomalous origin of the left circumflex artery from the right coronary artery

# concept[].display
Abnormality of the middle phalanx of the 3rd finger

# concept[].designation[].value
uPAR-acyl-GPI + H2O -> uPAR + long-chain fatty acid

# concept[].designation[].value
hydrolase activity, acting on ester bonds

# concept[].designation[].value
Production of AA by iPLA2 upon FCGR activation

# concept[].designation[].value
Phospholipid phosphatase 6 hydrolyses Presqualene diphosphate to presqualene monophosphate

# concept[].designation[].value
Partial proteolysis of antigen in phagolysosomes

# concept[].display
phosphotransferase activity, carboxyl group as acceptor

# concept[].display
Abnormality of digestive system morphology

# concept[].display
Abnormality of peripheral somatosensory evoked potentials

# concept[].display
B3GALTL transfers glucose to O-fucosyl-proteins

# concept[].designation[].value
Defective B3GALTL does not transfer glucose to O-fucosyl-proteins

# concept[].display
Abnormality of pattern reversal visual evoked potentials

# concept[].display
EMG: continuous motor unit activity at rest

# concept[].display
Morphological abnormality of the pyramidal tract

# concept[].display
transferase activity, transferring acyl groups other than amino-acyl groups

# concept[].display
Chenodeoxycholoyl CoA reacts with glycine or taurine to form glycochenodeoxycholate or taurochenodeoxycholate

# concept[].designation[].value
Cytosolic chenodeoxycholoyl-CoA or choloyl-CoA are conjugated with glycine or taurine

# concept[].designation[].value
transferase activity, transferring acyl groups

# concept[].designation[].value
Choloyl CoA reacts with glycine or taurine to form glycocholate or taurocholate

# concept[].designation[].value
LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs

# concept[].designation[].value
HRASLS transfer acyl group from PC to PE to form NAPE

# concept[].display
GTPBP3 and MTO1 transform uridine-34 yielding 5-taurinomethyluridine-34 in tRNA

# concept[].display
Abnormal blood urea nitrogen concentration

# concept[].display
low affinity immunoglobulin gamma Fc region receptor II-b (human)

# concept[].display
oxidoreductase activity, acting on CH or CH2 groups

# concept[].display
Stenosis of the medullary cavity of the long bones

# concept[].display
Abnormality of the medullary cavity of the long bones

# concept[].display
Abnormal cutaneous elastic fiber morphology

# concept[].display
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen

# concept[].display
Partial duplication of the middle phalanx of the 5th toe

# concept[].display
Shortening of all distal phalanges of the toes

# concept[].display
Cortical thickening of long bone diaphyses

# concept[].display
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Small epiphysis of the proximal phalanx of the 5th toe

# concept[].display
regulation of homocysteine metabolic process

# concept[].display
Absent fourth finger distal interphalangeal crease

# concept[].display
Incomplete partition of the cochlea type I

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 5th toe

# concept[].display
epithelial cell of upper respiratory tract

# concept[].display
Absent epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 5th toe

# concept[].display
Small epiphysis of the middle phalanx of the 5th toe

# concept[].display
Pseudoepiphysis of the middle phalanx of the 5th toe

# concept[].display
Abnormality of the distal phalanx of the 4th toe

# concept[].display
interleukin-5 receptor subunit alpha, signal peptide removed form

# concept[].display
Morphological abnormality of the semicircular canal

# concept[].display
Ivory epiphysis of the middle phalanx of the 5th toe

# concept[].display
Irregular epiphysis of the middle phalanx of the 5th toe

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 5th toe

# concept[].display
Absent epiphysis of the middle phalanx of the 5th toe

# concept[].display
Triangular epiphysis of the distal phalanx of the 5th toe

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 5th toe

# concept[].display
Small epiphysis of the distal phalanx of the 5th toe

# concept[].display
Fifth finger distal phalanx clinodactyly

# concept[].display
negative regulation of intestinal absorption

# concept[].display
regulation of pyrimidine nucleobase metabolic process

# concept[].display
Morphological abnormality of the nerves of the inner ear

# concept[].display
Pseudoepiphysis of the distal phalanx of the 5th toe

# concept[].display
Ivory epiphysis of the distal phalanx of the 5th toe

# concept[].display
Enlarged epiphysis of the distal phalanx of the 5th toe

# concept[].display
Bracket epiphysis of the distal phalanx of the 5th toe

# concept[].display
Triangular epiphysis of the proximal phalanx of the 4th toe

# concept[].display
positive regulation of alkaline phosphatase activity

# concept[].display
negative regulation of alkaline phosphatase activity

# concept[].display
Abnormality of the proximal phalanx of the 5th toe

# concept[].display
Avascular necrosis of the capital femoral epiphysis

# concept[].display
negative regulation of cellular carbohydrate metabolic process

# concept[].display
regulation of cellular carbohydrate metabolic process

# concept[].display
metatarsophalangeal joint of pedal digit 4

# concept[].display
Decreased circulating luteinizing hormone level

# concept[].display
positive regulation of embryonic development

# concept[].display
Abnormal platelet ATP dense granule secretion

# concept[].display
Abnormal platelet dense granule secretion

# concept[].display
vascular endothelial growth factor receptor

# concept[].display
Decreased proportion of class-switched memory B cells

# concept[].display
Increased proportion of class-switched memory B cells

# concept[].display
Abnormal proportion of class-switched memory B cells

# concept[].display
Increased proportion of marginal zone B cells

# concept[].display
urokinase plasminogen activator surface receptor

# concept[].display
Increased proportion of transitional B cells

# concept[].display
Decreased proportion of transitional B cells

# concept[].display
negative regulation of cell communication

# concept[].display
positive regulation of cell communication

# concept[].display
positive regulation of secretory granule organization

# concept[].display
negative regulation of secretory granule organization

# concept[].display
Increased proportion of immature B cells

# concept[].display
tumor necrosis factor ligand superfamily member 5

# concept[].display
negative regulation of organelle organization

# concept[].display
positive regulation of organelle organization

# concept[].display
Decreased Arden ratio of electrooculogram

# concept[].display
Abnormal morphology of myocardial trabeculae

# concept[].display
regulation of animal organ morphogenesis

# concept[].display
Decreased serum insulin-like growth factor 1

# concept[].display
oxidoreductase activity, acting on the aldehyde or oxo group of donors

# concept[].display
negative regulation of B cell activation

# concept[].display
Abnormal serum insulin-like growth factor 1 level

# concept[].display
Abnormal circulating luteinizing hormone level

# concept[].display
negative regulation of cardiac muscle tissue development

# concept[].display
regulation of cardiac muscle tissue development

# concept[].display
Elevated CD4-positive, CD25-positive regulatory T cell count

# concept[].display
Absence of CD4-positive, CD25-positive regulatory T cells

# concept[].display
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

# concept[].display
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

# concept[].display
Multinucleated giant chondrocytes in epiphyseal cartilage

# concept[].designation[].value
T-cell surface antigen CD2, signal peptide removed form (human)

# concept[].display
positive regulation of B cell activation

# concept[].designation[].value
alkaline phosphatase, placental type, signal peptide removed form (human)

# concept[].display
Increased glucose-6-phosphate dehydrogenase level in dried blood spot

# concept[].display
mast/stem cell growth factor receptor Kit (mouse)

# concept[].display
Type 1 fibers relatively smaller than type 2 fibers

# concept[].display
Decreased proportion of immature B cells

# concept[].display
Abnormal proportion of transitional B cells

# concept[].designation[].value
serum albumin, signal peptide removed form (human)

# concept[].display
negative regulation of cellular protein metabolic process

# concept[].display
Increased urinary excretion of galactosyl hydroxylysine

# concept[].display
Abnormal pulmonary thoracic imaging finding

# concept[].display
Decreased proportion of marginal zone B cells

# concept[].display
vasculature of central nervous system plus retina

# concept[].display
Increased vertical cup-to-disc ratio - 0.9

# concept[].display
Increased vertical cup-to-disc ratio - 0.7

# concept[].display
Increased vertical cup-to-disc ratio - 0.6

# concept[].display
Decreased expression of GPI-anchored proteins on the cell surface

# concept[].display
Deposits immunoreactive to beta-amyloid protein

# concept[].display
negative regulation of cilium-dependent cell motility

# concept[].display
Recurrent bacterial upper respiratory tract infections

# concept[].display
Abnormal portal venous system morphology

# concept[].display
oxidoreductase activity, acting on peroxide as acceptor

# concept[].display
Abnormal small intestinal mucosa morphology

# concept[].display
environmental system determined by a material

# concept[].display
environmental system determined by a quality

# concept[].display
Decreased small intestinal mucosa lactase activity

# concept[].display
Dysharmonic maturation of the hand bones

# concept[].display
Juvenile type ovarian granulosa cell tumor

# concept[].display
Reduction of disulphide bonds in MHC II antigens

# concept[].designation[].value
oxidoreductase activity, acting on a sulfur group of donors

# concept[].display
Ivory epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Enlarged epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Bracket epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Triangular epiphysis of the middle phalanx of the 4th toe

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 4th toe

# concept[].display
Small epiphysis of the middle phalanx of the 4th toe

# concept[].display
Pseudoepiphysis of the middle phalanx of the 4th toe

# concept[].display
Ivory epiphysis of the middle phalanx of the 4th toe

# concept[].display
Decreased serum mast cell beta-tryptase concentration

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 4th toe

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 4th toe

# concept[].display
Bracket epiphysis of the middle phalanx of the 4th toe

# concept[].display
Abnormality of the styloid process of ulna

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 4th toe

# concept[].display
Small epiphysis of the distal phalanx of the 4th toe

# concept[].display
Pseudoepiphysis of the distal phalanx of the 4th toe

# concept[].display
Irregular epiphysis of the distal phalanx of the 4th toe

# concept[].display
Bullet-shaped distal phalanges of the hand

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 4th toe

# concept[].display
Osteolytic defects of the distal phalanges of the hand

# concept[].display
Sclerotic radial metaphysis with longitudinal striations

# concept[].display
Irregular ossification of the radial metaphysis

# concept[].display
Patchy sclerosis of distal phalanx of finger

# concept[].display
Triangular epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Ivory epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Irregular epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Patchy sclerosis of middle phalanx of finger

# concept[].display
Symphalangism of middle phalanx of finger

# concept[].display
Irregular septal thickening on pulmonary HRCT

# concept[].display
Premature fusion of the radial epiphyseal plates

# concept[].display
hematopoietic lineage restricted progenitor cell

# concept[].display
Defective SRD5A3 does not reduce pPNOL to DCHOL

# concept[].designation[].value
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor

# concept[].display
Triangular shaped middle phalanges of the hand

# concept[].display
Bracket epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Absent epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
oxidoreductase activity, acting on the aldehyde or oxo group of donors, oxygen as acceptor

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Small epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Symphalangism affecting the proximal phalanges of the hand

# concept[].display
Irregular epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Enlarged epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Bracket epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Absent epiphysis of the middle phalanx of the 3rd toe

# concept[].display
Triangular epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Small epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Pseudoepiphysis of the distal phalanx of the 3rd toe

# concept[].display
Ivory epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Irregular epiphysis of the distal phalanx of the 3rd toe

# concept[].display
carcinoembryonic antigen-related cell adhesion molecule 8 (human)

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Enlarged epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Bracket epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Absent epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Triangular epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Cerebellar ataxia associated with quadrupedal gait

# concept[].display
Small epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Dysplastic distal thumb phalanges with a central hole

# concept[].display
Abnormality of small intestinal villus morphology

# concept[].display
Aplasia of the distal phalanges of the hand

# concept[].display
Irregular epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Cone-shaped epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
Triangular epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Stippling of the epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Contracture of the proximal interphalangeal joint of the 3rd toe

# concept[].display
Rudimentary postaxial polydactyly of hands

# concept[].display
Small epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Pseudoepiphysis of the middle phalanx of the 2nd toe

# concept[].display
Ivory epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Irregular epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Fragmentation of the epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Enlarged epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Bracket epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Absent epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Triangular epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Abnormal platelet alpha granule secretion

# concept[].display
Stippling of the epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Small epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Pseudoepiphysis of the distal phalanx of the 2nd toe

# concept[].display
Ivory epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Irregular epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Enlarged epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Cone-shaped epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Absent epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Cutaneous syndactyly between fingers 2 and 5

# concept[].display
Congenitally corrected transposition of the great arteries

# concept[].display
regulation of establishment of protein localization

# concept[].display
Decreased anterioposterior diameter of lumbar vertebral bodies

# concept[].display
negative regulation of meiotic nuclear division

# concept[].display
positive regulation of platelet activation

# concept[].display
Hyposegmentation of neutrophil nuclei in CSF

# concept[].display
Hypersegmentation of neutrophil nuclei in CSF

# concept[].display
Posterior fusion of lumbosacral vertebrae

# concept[].display
negative regulation of sister chromatid segregation

# concept[].display
regulation of cellular ketone metabolic process

# concept[].display
negative regulation of phosphorus metabolic process

# concept[].display
positive regulation of phosphorus metabolic process

# concept[].display
regulation of glycoprotein biosynthetic process

# concept[].display
negative regulation of macromolecule biosynthetic process

# concept[].display
positive regulation of macromolecule biosynthetic process

# concept[].display
regulation of macromolecule biosynthetic process

# concept[].display
positive regulation of cytokine production

# concept[].display
Partial absence of the septum pellucidum

# concept[].display
interleukin-3 receptor class 2 alpha chain

# concept[].display
interleukin-2 receptor subunit beta (human)

# concept[].display
smooth muscle tissue of terminal bronchiole

# concept[].display
positive regulation of fat cell differentiation

# concept[].display
negative regulation of circadian sleep/wake cycle, sleep

# concept[].display
myocardium of anterior wall of right ventricle

# concept[].display
myocardium of anterior wall of left ventricle

# concept[].display
Increased serum insulin-like growth factor 1

# concept[].display
Calcification of the interosseus membrane of the forearm

# concept[].display
positive regulation of isomerase activity

# concept[].display
Aplasia/Hypoplasia of the middle phalanx of the 5th toe

# concept[].display
Glycogen accumulation in muscle fiber lysosomes

# concept[].display
unsaturated fatty acid metabolic process

# concept[].display
Accumulation of muscle fiber valosin-containing protein

# concept[].display
Abnormal muscle fiber valosin-containing protein

# concept[].display
positive regulation of lipid localization

# concept[].display
negative regulation of lipid localization

# concept[].display
Muscle specific kinase antibody positivity

# concept[].display
distal epiphysis of distal phalanx of pedal digit 3

# concept[].display
distal epiphysis of distal phalanx of pedal digit 2

# concept[].display
positive regulation of myeloid leukocyte mediated immunity

# concept[].display
regulation of ornithine metabolic process

# concept[].display
EMG: incremental response of compound muscle action potential to repetitive nerve stimulation

# concept[].display
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

# concept[].display
Favorable response of weakness to acetylcholine esterase inhibitors

# concept[].display
Fatiguable weakness of proximal limb muscles

# concept[].display
Duplication of the middle phalanx of the 2nd toe

# concept[].display
Absent Birbeck granules in Langerhans cells

# concept[].display
Advanced ossification of the humeral epiphysis

# concept[].display
Triangular shaped distal phalanx of the 2nd toe

# concept[].display
Diffuse reticular or finely nodular infiltrations

# concept[].display
positive regulation of response to biotic stimulus

# concept[].display
negative regulation of response to biotic stimulus

# concept[].display
regulation of response to biotic stimulus

# concept[].display
Increased disialylated core 1 O-glycan level

# concept[].display
Duplication of the distal phalanx of the 4th toe

# concept[].display
negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains

# concept[].display
Melanin pigment aggregation in hair shafts

# concept[].display
regulation of signaling receptor activity

# concept[].display
Decreased circulating parathyroid hormone level

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 5th toe

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 4th toe

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 3rd toe

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 3rd toe

# concept[].display
Abnormality of the epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Fragmentation of the epiphyses of the 5th toe

# concept[].display
Stippling of the epiphyses of the 4th toe

# concept[].display
Fragmentation of the epiphyses of the 4th toe

# concept[].display
Stippling of the epiphyses of the 3rd toe

# concept[].display
Duplication of the distal phalanx of the 2nd finger

# concept[].display
Fragmentation of the epiphyses of the 3rd toe

# concept[].display
Abnormal connection of the cardiac segments

# concept[].display
Stippling of the epiphyses of the 2nd toe

# concept[].display
Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection

# concept[].display
Right sided atrium to left ventricle and absent left sided atrioventricular connection

# concept[].display
Complete duplication of the phalanges of the 3rd finger

# concept[].display
Fragmentation of the epiphyses of the 2nd toe

# concept[].display
Partial duplication of the middle phalanx of the 3rd finger

# concept[].display
Increased proportion of central memory CD8-positive, alpha-beta T cells

# concept[].display
Facial telangiectasia in butterfly midface distribution

# concept[].display
integral component of mitochondrial membrane

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the 5th toe

# concept[].display
Duplication of the middle phalanx of the 4th finger

# concept[].display
Complete duplication of the distal phalanx of the 4th finger

# concept[].display
Complete duplication of the middle phalanx of the 4th finger

# concept[].display
Abnormality of the epiphysis of the middle phalanx of the 2nd toe

# concept[].display
Complete duplication of the phalanges of the 5th finger

# concept[].display
Duplication of the distal phalanx of the 5th finger

# concept[].display
integrin beta-7, signal peptide removed form

# concept[].display
Increased renal tubular phosphate reabsorption

# concept[].display
Short chordae tendineae of the mitral valve

# concept[].display
Abnormality of bone marrow cell morphology

# concept[].display
Left aortic arch with cervical origin of the right subclavian artery

# concept[].display
Left aortic arch with isolated subclavian artery

# concept[].display
Neoplasm of the peripheral nervous system

# concept[].display
Abnormality of the kinin-kallikrein system

# concept[].display
pedal digit 5 metatarsal pre-cartilage condensation

# concept[].display
positive regulation of bile acid metabolic process

# concept[].display
negative regulation of bile acid metabolic process

# concept[].display
regulation of bile acid metabolic process

# concept[].display
T cell chronic lymphocytic lymphoma/leukemia

# concept[].display
Fatigable weakness of distal limb muscles

# concept[].display
Impaired neutrophil killing of staphylococci

# concept[].display
negative regulation of leukocyte mediated cytotoxicity

# concept[].display
positive regulation of leukocyte mediated cytotoxicity

# concept[].display
Premature epimetaphyseal fusion in radius

# concept[].display
Abnormality of central nervous system electrophysiology

# concept[].display
Fixed splitting of the second heart sound

# concept[].display
Aplasia/Hypoplasia of the phalanges of the 4th finger

# concept[].display
negative regulation of inflammatory response to wounding

# concept[].display
Abnormal morphology of the musculature of the neck

# concept[].display
cellular divalent inorganic cation homeostasis

# concept[].display
Abnormality of the humeral epiphyseal plate

# concept[].display
negative regulation of mononuclear cell migration

# concept[].display
positive regulation of cytokine-mediated signaling pathway

# concept[].display
Ground glass opacity of humeral diaphysis

# concept[].display
Excessive bleeding from superficial cuts

# concept[].display
Enhanced ristocetin cofactor assay activity

# concept[].display
Total absence von Willebrand factor multimers

# concept[].display
Absence of large von Willibrand factor multimers

# concept[].display
Abnormal von Willebrand factor multimer distribution

# concept[].display
regulation of circadian sleep/wake cycle

# concept[].display
Stippling of the epiphyses of the 3rd finger

# concept[].display
Impaired ristocetin cofactor assay activity

# concept[].display
Sacralization of the fifth lumbar vertebra

# concept[].display
Left aortic arch with retroesophageal diverticulum of Kommerell

# concept[].display
Right aortic arch with retroesophageal diverticulum of Kommerell

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 3rd finger

# concept[].display
Cortical thickening of the forearm bones

# concept[].display
positive regulation of Schwann cell differentiation

# concept[].display
positive regulation of myeloid leukocyte differentiation

# concept[].display
negative regulation of myeloid leukocyte differentiation

# concept[].display
Abnormal timing of light-adapted single flash electroretinogram

# concept[].display
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

# concept[].display
Abnormal amplitude of pattern electroretinogram

# concept[].display
negative regulation of serotonin secretion

# concept[].display
positive regulation of serotonin secretion

# concept[].display
Abnormal posterior circulating artery morphology

# concept[].display
Absent ossification of cervical vertebral bodies

# concept[].display
positive regulation of secretion by cell

# concept[].display
regulation of cytokine secretion involved in immune response

# concept[].display
CD4 molecule, signal peptide removed form (human)

# concept[].display
pelvic appendage apical ectodermal ridge

# concept[].display
pectoral appendage apical ectodermal ridge

# concept[].display
negative regulation of transmembrane transport

# concept[].display
Abnormal lateral rectus muscle physiology

# concept[].designation[].value
Hydroperoxy reductase reduces 4(S)-Hp-17(S)-HDHA to RvD6

# concept[].designation[].value
SUMF1 mediates the oxidation of cysteine to formylglycine, producing active arylsulfatases

# concept[].designation[].value
Hydroperoxy reductase reduces 7(S)-Hp-17(R)-HDHA to AT-RvD5

# concept[].designation[].value
Hydroperoxy reducatse reduces 7(S)-Hp-17(S)-HDHA to RvD5

# concept[].designation[].value
Monoiodinated tyrosine can be deiodinated

# concept[].designation[].value
Hydroperoxy reductase reduces 4(S)-Hp-17(R)-HDHA to AT-RvD6

# concept[].designation[].value
Dopachrome is transformed to DHICA by DCT

# concept[].designation[].value
Hydroperoxy reducatase reduces 14(S)-Hp-DHA to 14(S)-HDHA

# concept[].designation[].value
Hydroperoxy reductase reduces 7,17-diHp-DPAn-3 to RvD5n-3DPA

# concept[].display
Abnormal horizontal rectus muscle physiology

# concept[].display
Agenesis of primary maxillary central incisor

# concept[].display
positive regulation of natural killer cell mediated immunity

# concept[].display
regulation of natural killer cell mediated immunity

# concept[].display
positive regulation of B cell mediated immunity

# concept[].display
negative regulation of B cell mediated immunity

# concept[].display
alimentary part of gastrointestinal system

# concept[].display
negative regulation of lymphocyte mediated immunity

# concept[].display
positive regulation of leukocyte mediated immunity

# concept[].display
negative regulation of leukocyte mediated immunity

# concept[].display
regulation of leukocyte mediated immunity

# concept[].display
G protein-coupled receptor signaling pathway

# concept[].display
Bullet-shaped proximal phalanx of the 3rd finger

# concept[].display
apoptotic process involved in blood vessel morphogenesis

# concept[].display
Symphalangism affecting the proximal phalanx of the 3rd finger

# concept[].display
Compensatory head tilt to the left shoulder

# concept[].display
Triangular shaped proximal phalanx of the 3rd finger

# concept[].display
High maternal serum chorionic gonadotropin

# concept[].display
negative regulation of protein localization to cilium

# concept[].display
Compensatory head tilt to the right shoulder

# concept[].display
positive regulation of tryptophan metabolic process

# concept[].display
regulation of tryptophan metabolic process

# concept[].display
somatic recombination of immunoglobulin gene segments

# concept[].display
subdivision of organism along main body axis

# concept[].display
Complete diaphragmatic absence of pericardium

# concept[].display
Partial right sided absence of pericardium

# concept[].display
Anomalous origin of right coronary artery from the pulmonary artery

# concept[].display
negative regulation of platelet aggregation

# concept[].display
negative regulation of locomotion involved in locomotory behavior

# concept[].display
positive regulation of locomotion involved in locomotory behavior

# concept[].display
regulation of locomotion involved in locomotory behavior

# concept[].display
regulation of superoxide metabolic process

# concept[].display
Osteolytic defects of the middle phalanges of the hand

# concept[].display
Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs

# concept[].designation[].value
LRAT esterifies RBP1:atROL and FACYLs to atREs

# concept[].display
negative regulation of intracellular protein transport

# concept[].display
Tetralogy of Fallot with absent pulmonary valve

# concept[].display
Nodular-perilymphatic pattern on pulmonary HRCT

# concept[].display
Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

# concept[].display
Anomalous origin of one pulmonary artery from ascending aorta

# concept[].display
Abnormality of multiple cell lineages in the bone marrow

# concept[].display
Abnormality of the alternative complement pathway

# concept[].display
Interrupted inferior vena cava with azygous continuation

# concept[].display
regulation of mitotic chromosome condensation

# concept[].display
Tetralogy of Fallot with pulmonary stenosis

# concept[].display
Bullet-shaped proximal phalanges of the hand

# concept[].display
Supraventricular tachycardia with a concealed accessory pathway on the left free wall

# concept[].display
Supraventricular tachycardia with a manifest accessory pathway on the septum

# concept[].display
Abnormality of the epiphysis of the 1st metacarpal

# concept[].display
Recurrent infections in infancy and early childhood

# concept[].display
respiratory system lymphatic vessel endothelium

# concept[].display
Abnormal muscle fiber merosin expression

# concept[].display
Decreased proportion of CD8-positive T cells

# concept[].display
negative regulation of chromosome segregation

# concept[].display
positive regulation of chromosome segregation

# concept[].display
Decreased proportion of CD4-positive T cells

# concept[].display
Sclerosis of the distal phalanx of the 5th finger

# concept[].display
Sclerosis of the middle phalanx of the 2nd finger

# concept[].display
positive regulation of transmission of nerve impulse

# concept[].display
negative regulation of transmission of nerve impulse

# concept[].display
Sclerosis of the middle phalanx of the 3rd finger

# concept[].display
Symphalangism affecting the phalanges of the hallux

# concept[].display
Aplasia/hypoplasia of the 1st metatarsal

# concept[].display
positive regulation of protein O-linked glycosylation

# concept[].display
regulation of transmission of nerve impulse

# concept[].display
negative regulation of nervous system development

# concept[].display
regulation of nervous system development

# concept[].display
Osteolytic defects of the 1st metatarsal

# concept[].display
Duplication of the distal phalanx of the hallux

# concept[].display
Sclerosis of the proximal phalanx of the 4th finger

# concept[].display
Bracket epiphysis of the distal phalanx of the 2nd toe

# concept[].display
Triangular shaped proximal phalanx of the hallux

# concept[].display
Partial duplication of the 1st metatarsal

# concept[].display
Diffuse glomerular basement membrane lamellation

# concept[].display
Osteolytic defects of the proximal phalanx of the hallux

# concept[].display
Partial fusion of proximal row of carpal bones

# concept[].display
positive regulation of immune effector process

# concept[].display
negative regulation of immune effector process

# concept[].display
positive regulation of leukocyte activation

# concept[].display
negative regulation of leukocyte activation

# concept[].display
positive regulation of leukocyte chemotaxis

# concept[].display
distal interphalangeal joint of pedal digit 5

# concept[].display
distal interphalangeal joint of pedal digit 4

# concept[].display
positive regulation of cell cycle process

# concept[].display
distal interphalangeal joint of pedal digit 2

# concept[].display
distal interphalangeal joint of manual digit 4

# concept[].display
negative regulation of leukocyte chemotaxis

# concept[].display
negative regulation of immune system process

# concept[].display
smooth muscle tissue layer of ejaculatory duct

# concept[].display
negative regulation of adaptive immune response

# concept[].display
EMG: repetitive nerve stimulation abnormality

# concept[].display
Entrapment neuropathy of the ulnar nerve at elbow

# concept[].display
Absent epiphysis of the proximal phalanx of the 2nd toe

# concept[].display
respiratory burst involved in defense response

# concept[].display
positive regulation of chronic inflammatory response

# concept[].display
negative regulation of chronic inflammatory response

# concept[].display
regulation of chronic inflammatory response

# concept[].display
positive regulation of acute inflammatory response

# concept[].display
negative regulation of acute inflammatory response

# concept[].display
regulation of acute inflammatory response

# concept[].display
Disseminated infection with live vaccine virus

# concept[].display
Abnormally loud pulmonic component of the second heart sound

# concept[].display
interleukin-5 receptor subunit alpha (human)

# concept[].display
Sclerosis of the middle phalanx of the 2nd toe

# concept[].display
negative regulation of peripheral tolerance induction

# concept[].display
regulation of peripheral tolerance induction

# concept[].display
negative regulation of tolerance induction dependent upon immune response

# concept[].display
regulation of tolerance induction dependent upon immune response

# concept[].display
positive regulation of tolerance induction

# concept[].display
negative regulation of tolerance induction

# concept[].display
positive regulation of type 2 immune response

# concept[].display
Respiratory insufficiency due to defective ciliary clearance

# concept[].display
positive regulation of immunoglobulin production

# concept[].display
negative regulation of immunoglobulin production

# concept[].display
Systolic anterior motion of the mitral valve

# concept[].display
monocyte differentiation antigen CD14 (human)

# concept[].display
Sclerosis of the distal phalanx of the hallux

# concept[].display
Increased anti-dairy protein IgE antibody level

# concept[].display
positive regulation of apoptotic process involved in morphogenesis

# concept[].display
Fusiform ascending tubular aorta aneurysm

# concept[].display
smooth muscle layer in fatty layer of subcutaneous tissue

# concept[].display
Anomalous origin of the left anterior descending artery from the pulmonary artery

# concept[].display
Anomalous origin of the right common carotid artery from the aorta

# concept[].display
Anomalous origin of the left common carotid artery from the brachiocephalic artery

# concept[].display
Anomalous origin of the left common carotid artery from the main pulmonary artery

# concept[].display
negative regulation of peptide hormone secretion

# concept[].display
positive regulation of peptide hormone secretion

# concept[].display
Decreased lecithin cholesterol acyl transferase activity

# concept[].display
Advanced pneumatization of cranial sinuses

# concept[].display
negative regulation of protein modification process

# concept[].display
Abnormal electrophysiology of sinoatrial node origin

# concept[].display
Morphological abnormality of the papillary muscles

# concept[].display
Anomalous insertion of papillary muscle directly into anterior mitral leaflet

# concept[].display
Anterior displacement of the papillary muscles

# concept[].display
Dense calcifications in the cerebellar dentate nucleus

# concept[].display
Cardiac total anomalous pulmonary venous connection

# concept[].display
Infracardiac total anomalous pulmonary venous connection

# concept[].display
Mixed total anomalous pulmonary venous connection

# concept[].display
Abnormal circulating beta globulin level

# concept[].display
Abnormality of circulating cortisol level

# concept[].display
Elevated imprint of the transverse sinuses

# concept[].display
Muscle hypertrophy of the lower extremities

# concept[].display
Enlarged epiphysis of the middle phalanx of the 4th toe

# concept[].display
Irregular epiphysis of the middle phalanx of the 4th toe

# concept[].display
positive regulation of monooxygenase activity

# concept[].display
Enlargement of the costochondral junction

# concept[].display
hematopoietic progenitor cell antigen CD34 (human)

# concept[].display
Abnormality of the costochondral junction

# concept[].display
Intrauterine fetal demise of one twin after midgestation

# concept[].display
Absent epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Irregular epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Pseudoepiphysis of the proximal phalanx of the 4th toe

# concept[].display
Small epiphysis of the proximal phalanx of the 4th toe

# concept[].display
arachidonic acid metabolite production involved in inflammatory response

# concept[].display
Depletion of components of the alternative complement pathway

# concept[].display
negative regulation of protein O-linked glycosylation

# concept[].display
anatomical structure formation involved in morphogenesis

# concept[].display
negative regulation of developmental growth

# concept[].display
positive regulation of developmental growth

# concept[].display
positive regulation of muscle organ development

# concept[].display
Thyrotoxicosis with toxic single thyroid nodule

# concept[].display
negative regulation of biological process

# concept[].display
Duplication of the proximal phalanx of the thumb

# concept[].display
Abnormality of the epiphysis of the proximal phalanx of the hallux

# concept[].display
Absent epiphysis of the proximal phalanx of the hallux

# concept[].display
cellular modified amino acid metabolic process

# concept[].display
Severe constriction of peripheral visual field

# concept[].display
Fragmentation of the epiphysis of the proximal phalanx of the hallux

# concept[].display
Ivory epiphysis of the proximal phalanx of the hallux

# concept[].display
Small epiphysis of the proximal phalanx of the hallux

# concept[].display
Abnormalities of the metaphyses of the hand

# concept[].display
Aplasia/hypoplasia involving bones of the hand

# concept[].display
Anomalous branches of internal carotid artery

# concept[].display
killing of cells in other organism involved in symbiotic interaction

# concept[].display
regulation of spermatid nuclear differentiation

# concept[].display
negative regulation of spermatid nuclear differentiation

# concept[].designation[].value
endothelial transcription factor GATA-2 (human)

# concept[].display
regulation of myeloid leukocyte mediated immunity

# concept[].display
negative regulation of myeloid leukocyte mediated immunity

# concept[].display
cytokine production involved in inflammatory response

# concept[].display
Generalized tonic-clonic seizures with focal onset

# concept[].display
Ventilator dependence with inability to wean

# concept[].display
modification by host of symbiont morphology or physiology

# concept[].display
Visual acuity light perception with projection

# concept[].display
Visual acuity light perception without projection

# concept[].display
positive regulation of meiotic nuclear division

# concept[].display
Abnormality of musculature of soft palate

# concept[].display
Abnormal morphology of musculature of pharynx

# concept[].display
Abnormality of muscle of facial expression

# concept[].display
Aplasia/Hypoplasia of the middle phalanges of the toes

# concept[].display
disruption of cells of other organism involved in symbiotic interaction

# concept[].display
Chronic hepatitis due to cryptosporidium infection

# concept[].display
tela choroidea of telencephalic ventricle

# concept[].display
Duplication of the middle phalanx of the 3rd toe

# concept[].display
tela choroidea of midbrain cerebral aqueduct

# concept[].display
ventricular system of central nervous system

# concept[].display
Duplication of the proximal phalanx of the 5th toe

# concept[].display
Complete duplication of the distal phalanx of the 3rd toe

# concept[].display
positive regulation of mitotic chromosome condensation

# concept[].display
Abnormal aggressive, impulsive or violent behavior

# concept[].display
Inability to walk by childhood/adolescence

# concept[].display
sacral division of spinal cord central canal

# concept[].display
lumbar division of spinal cord central canal

# concept[].display
cervical division of cord spinal central canal

# concept[].display
subdivision of spinal cord central canal

# concept[].display
white matter lamina of cerebral hemisphere

# concept[].display
Abnormal pulmonary valve cusp morphology

# concept[].display
Abnormal automated kinetic perimetry test

# concept[].display
Coronary cameral fistula to right ventricle

# concept[].display
Abnormal static automated perimetry test

# concept[].display
Abnormal Humphrey SITA 10-2 perimetry test

# concept[].display
Abnormality of the cerebral white matter

# concept[].display
Calcification of the small brain vessels

# concept[].display
prostaglandin production involved in inflammatory response

# concept[].display
respiratory burst involved in inflammatory response

# concept[].display
production of molecular mediator involved in inflammatory response

# concept[].display
Reduced granulocyte surface marker level

# concept[].display
plasma membrane bounded cell projection organization

# concept[].display
regulation of plasma membrane bounded cell projection organization

# concept[].display
positive regulation of plasma membrane bounded cell projection assembly

# concept[].display
regulation of plasma membrane bounded cell projection assembly

# concept[].display
plasma membrane bounded cell projection assembly

# concept[].display
Abnormality of the periventricular white matter

# concept[].display
leukocyte migration involved in immune response

# concept[].display
Abnormally low T cell receptor excision circle level

# concept[].display
Linear C3 deposits along the epidermal basement membrane zone

# concept[].display
distal interphalangeal joint of manual digit 3

# concept[].display
distal interphalangeal joint of pedal digit 3

# concept[].display
Linear IgA deposits along the epidermal basement membrane zone

# concept[].display
Separate origin of the left anterior descending and left circumflex artery

# concept[].display
Increased theta frequency activity in EEG

# concept[].display
Passive dorsiflexion of the 5th finger more than 90 degrees

# concept[].display
regulation of cholesterol metabolic process

# concept[].display
positive regulation of dendritic cell differentiation

# concept[].display
Cauliflower deformity of dermal collagen fibrils

# concept[].display
Increased proportion of exhausted T cells

# concept[].display
Abnormality of the hypothalamus-pituitary axis

# concept[].display
Abnormal morphology of the choroidal vasculature

# concept[].display
T-cell acute lymphocytic leukemia protein 1 homolog (mouse)

# concept[].display
negative regulation of sperm capacitation

# concept[].display
negative regulation of response to stimulus

# concept[].display
positive regulation of response to stimulus

# concept[].display
negative regulation of vitamin metabolic process

# concept[].display
Abnormal superior oblique muscle physiology

# concept[].display
Intimal thickening in the coronary arteries

# concept[].display
negative regulation of tooth mineralization

# concept[].display
positive regulation of tooth mineralization

# concept[].display
negative regulation of enamel mineralization

# concept[].display
hematopoietic or lymphoid organ development

# concept[].display
positive regulation of cytokine production involved in immune response

# concept[].display
positive regulation of chromosome organization

# concept[].display
Abnormal facility in opposing the shoulders

# concept[].display
Unilateral absence of pectoralis major muscle

# concept[].display
negative regulation of T cell differentiation

# concept[].display
Increased anterioposterior diameter of thorax

# concept[].display
positive regulation of biological process

# concept[].display
Adult onset sensorineural hearing impairment

# concept[].display
Hypoplasia of the abdominal wall musculature

# concept[].display
chromosome organization involved in meiotic cell cycle

# concept[].display
Triangular shaped proximal phalanges of the toes

# concept[].display
Contracture of the tarsometatarsal joint of the hallux

# concept[].display
Contracture of the interphalangeal joint of the hallux

# concept[].display
Reduced insulin like growth factor binding protein acid labile subunit level

# concept[].display
low affinity immunoglobulin gamma Fc region receptor III

# concept[].display
low affinity immunoglobulin gamma Fc region receptor II-b

# concept[].display
Pubertal developmental failure in females

# concept[].display
low affinity immunoglobulin gamma Fc region receptor II

# concept[].display
positive regulation of glucose metabolic process

# concept[].display
Bracket epiphyses of the middle phalanges of the hand

# concept[].display
T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form

# concept[].display
Triangular epiphyses of the proximal phalanges of the hand

# concept[].display
energy derivation by oxidation of organic compounds

# concept[].display
Sensorimotor polyneuropathy affecting arms more than legs

# concept[].display
Stippling of the epiphysis of the proximal phalanx of the 4th toe

# concept[].display
Absent epiphysis of the distal phalanx of the 5th toe

# concept[].display
Triangular epiphysis of the distal phalanx of the 2nd finger

# concept[].display
Fragmentation of the epiphysis of the distal phalanx of the 5th toe

# concept[].display
Irregular epiphysis of the distal phalanx of the 5th toe

# concept[].display
EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor

# concept[].display
negative regulation of dendritic cell differentiation

# concept[].display
regulation of dendritic cell differentiation

# concept[].display
Bracket epiphysis of the middle phalanx of the 5th toe

# concept[].display
Cone-shaped epiphysis of the middle phalanx of the 5th toe

# concept[].display
Enlarged epiphysis of the middle phalanx of the 5th toe

# concept[].display
T-cell surface glycoprotein CD8 beta chain (mouse)

# concept[].display
positive regulation of killing of cells of other organism

# concept[].display
negative regulation of killing of cells of other organism

# concept[].display
Absent epiphysis of the proximal phalanx of the 2nd finger

# concept[].display
negative regulation of cytokine secretion involved in immune response

# concept[].display
positive regulation of cytokine secretion involved in immune response

# concept[].display
Triangular epiphysis of the middle phalanx of the 5th toe

# concept[].display
Mucinous cystic neoplasm of the pancreas

# concept[].display
Continuous spike and waves during slow sleep

# concept[].display
White mater abnormalities in the posterior periventricular region

# concept[].display
Reduced contraction of the left ventricular apex

# concept[].display
Abnormal regional left ventricular contraction

# concept[].display
Abnormal mitral valve leaflet morphology

# concept[].display
Disorganization of the anterior cerebellar vermis

# concept[].display
Abnormal mitral valve annulus morphology

# concept[].display
serotonin secretion involved in inflammatory response

# concept[].display
production of molecular mediator of immune response

# concept[].display
complement component C1q receptor, signal peptide removed form

# concept[].display
Monoclonal light chain cardiac amyloidosis

# concept[].display
Abnormal superior rectus muscle physiology

# concept[].display
Contracture of the proximal interphalangeal joint of the 2nd finger

# concept[].display
Abnormality of the phalanges of the 2nd finger

# concept[].display
Abnormal tricuspid valve annulus morphology

# concept[].display
Abnormal sex hormone-binding globulin level

# concept[].display
Midline skin dimples over anterior/posterior fontanelles

# concept[].designation[].value
receptor-type tyrosine-protein kinase FLT3, signal peptide removed form (human)

# concept[].display
positive regulation of catalase activity

# concept[].display
Abnormal morphology of the cerebellar cortex

# concept[].display
Small yellow foveal lesion with surrounding grey zone

# concept[].display
positive regulation of blood circulation

# concept[].display
Reduced sex -hormone binding protein level

# concept[].display
Abnormal distribution of CD56 bright/dim natural killer cells

# concept[].display
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger

# concept[].display
Focal autonomic seizures with altered responsiveness

# concept[].display
Bullet-shaped distal phalanx of the 2nd finger

# concept[].display
Increased proportion of CD25+ mast cells

# concept[].display
Reduced antigen-specific T cell proliferation

# concept[].display
Fc-epsilon RIalpha-high basophil progenitor cell

# concept[].display
myelination in peripheral nervous system

# concept[].display
Abnormal muscle fiber protein expression

# concept[].display
Recurrent acute respiratory tract infection

# concept[].display
high affinity immunoglobulin epsilon receptor subunit alpha

# concept[].display
Abnormality of central somatosensory evoked potentials

# concept[].display
intrinsic component of organelle membrane

# concept[].display
Elevated alkaline phosphatase of renal origin

# concept[].display
Complete heart block with broad QRS complexes

# concept[].display
negative regulation of cellular metabolic process

# concept[].display
negative regulation of cellular biosynthetic process

# concept[].display
positive regulation of cellular biosynthetic process

# concept[].display
Absent dorsal skin creases over affected joints

# concept[].display
negative regulation of sulfur amino acid metabolic process

# concept[].display
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines

# concept[].display
regulation of cell projection organization

# concept[].display
positive regulation of cell projection organization

# concept[].display
Abnormality of endocrine pancreas physiology

# concept[].display
Congenital hypertrophy of left ventricle

# concept[].display
EEG with generalized epileptiform discharges

# concept[].display
Posterior scalloping of vertebral bodies

# concept[].display
negative regulation of muscle organ development

# concept[].display
thoracic division of spinal cord central canal