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Human Phenotype Ontology
HP
All terms in HP
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Label
Id
Description
Decreased circulating androstenedione concentration
HP_0033812
Atypical neurofibromatosis
HP_0007524
Moderate postnatal growth retardation
HP_0008855
Decreased circulating dihydrotestosterone concentration
HP_0033810
Decreased circulating androgen concentration
HP_0030349
Increased number of skin folds
HP_0007522
Irregular hyperpigmentation of back
HP_0007521
Severe postnatal growth retardation
HP_0008850
Partial-complete absence of 5th phalanges
HP_0006209
Abnormal epidermis stratum granulosum morphology
HP_0033806
Non-necrotizing granuloma
HP_0033805
Partial fusion of carpals
HP_0006207
Subepidermal blistering
HP_0033804
Blistering by histological location
HP_0033801
Metaphyseal cupping of proximal phalanges
HP_0006208
Blistering with sub-lamina densa plane of cleavage
HP_0033803
Severe photosensitivity
HP_0007537
Irregular phalanges
HP_0006205
Hypersegmentation of proximal phalanx of second finger
HP_0006206
Aplasia cutis congenita of midline scalp vertex
HP_0007536