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Human Phenotype Ontology
HP
All terms in HP
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Label
Id
Description
Congenital nonbullous ichthyosiform erythroderma
HP_0007479
Congenital ichthyosiform erythroderma
HP_0007431
Global cerebellar dysplasia
HP_0033744
[A type of cerebellar dysplasia that affects the entire cerebellum.]
Diffuse subcortical band heterotopia
HP_0032413
Broad metacarpal epiphyses
HP_0006146
Progressive fusion 2nd-5th pip joints
HP_0006147
Anhidrotic ectodermal dysplasia
HP_0007476
Shortening of all proximal phalanges of the fingers
HP_0006144
Central Y-shaped metacarpal
HP_0006145
Y-shaped metacarpals
HP_0006042
Congenital bullous ichthyosiform erythroderma
HP_0007475
Crusting erythematous dermatitis
HP_0007473
Premature fusion of phalangeal epiphyses
HP_0006140
Axillary and groin hyperpigmentation and hypopigmentation
HP_0007471
Hyperpigmented nevi
HP_0007481
Decreased sweating due to autonomic dysfunction
HP_0007480
Swan neck-like deformities of the fingers
HP_0006150
Macular agenesis
HP_0033743
Anterior predominant subcortical band heterotopia
HP_0032412
Intrarenal reflux
HP_0033742