MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Hypochondrogenesis

ORPHA:93297Клин. подтип
Autosomal dominant

Hypochondroplasia

ORPHA:429Заболевание
Autosomal dominant

Hypocomplementemic urticarial vasculitis

ORPHA:36412Заболевание
Autosomal recessive, Not applicable

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Мальформация
Autosomal dominant

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

ORPHA:685067Заболевание
Autosomal recessive

Hypoglossia-hypodactyly syndrome

ORPHA:989Мальформация
Unknown

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

ORPHA:2233Заболевание
Unknown

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

ORPHA:2230Заболевание
Autosomal dominant

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

ORPHA:2235Заболевание
Unknown

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

ORPHA:293967Мальформация
Autosomal recessive

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

ORPHA:528105Заболевание
Autosomal recessive

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

ORPHA:363523Заболевание
Autosomal recessive

Hypohidrotic ectodermal dysplasia

ORPHA:238468Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Hypohidrotic ectodermal dysplasia with immunodeficiency

ORPHA:98813Заболевание
Autosomal dominant, X-linked recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Мальформация
Autosomal recessive

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

ORPHA:69088Заболевание
X-linked recessive

Hypoinsulinemic hypoglycemia and body hemihypertrophy

ORPHA:293964Заболевание
Autosomal dominant

Hypokalemic periodic paralysis

ORPHA:681Заболевание
Autosomal dominant

Hypomandibular faciocranial dysostosis

ORPHA:1790Мальформация
Unknown

Hypomaturation amelogenesis imperfecta

ORPHA:100033Клин. подтип
Autosomal recessive, X-linked dominant

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

ORPHA:100034Клин. подтип
Autosomal dominant

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

ORPHA:137639Клин. подтип
Autosomal recessive

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Мальформация
Autosomal recessive

Hypomyelination of early myelinating structures

ORPHA:599376Заболевание
X-linked dominant