All terms in HP

Label Id Description
carboxylic acid biosynthetic process GO_0046394 [The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups.]
organic acid biosynthetic process GO_0016053 [The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage.]
Bracket epiphysis of the 1st metatarsal HP_0010150 [The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.]
Cone-shaped epiphysis of the 1st metatarsal HP_0010151 [A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.]
Abnormality of the first metatarsal bone HP_0010054 [An anomaly of the first metatarsal bone.]
Abnormal metatarsal epiphysis morphology HP_0010630 [Any abnormality of a metatarsal bone epiphysis.]
Anti-GD1a IgM antibody positivity HP_0034120 [The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.]
Anti-GM1 IgM antibody positivity HP_0034118 [The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.]
Ulnar deviation of the 5th finger HP_0009180 [Displacement of the 5th finger towards the ulnar side.]
Deviation of the 5th finger HP_0009179 [Displacement of the 5th finger from its normal position.]
Ulnar deviation of finger HP_0009465 [Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.]
Anti-GD1a IgG antibody positivity HP_0034119 [The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.]
cobalamin binding intrinsic factor PR_000007975 [A protein that is a translation product of the human CBLIF gene or a 1:1 ortholog thereof.]
Triangular shaped middle phalanx of the 5th finger HP_0009182 [Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.]
Triangular shaped middle phalanges of the hand HP_0009850
Joint contracture of the 5th finger HP_0009183 [Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.]
Flexion contracture of finger HP_0012785 [Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.]
Contracture of the distal interphalangeal joint of the 5th finger HP_0009184 [Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.]
Contracture of the distal interphalangeal joint of the fingers HP_0009697 [Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.]
Contracture of the proximal interphalangeal joint of the 5th finger HP_0009185 [Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.]