MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Hypochondrogenesis

ORPHA:93297Kl. subt.
Autosomal dominant

Hypochondroplasia

ORPHA:429Kr.
Autosomal dominant

Hypocomplementemic urticarial vasculitis

ORPHA:36412Kr.
Autosomal recessive, Not applicable

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Malf.
Autosomal dominant

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

ORPHA:685067Kr.
Autosomal recessive

Hypoglossia-hypodactyly syndrome

ORPHA:989Malf.
Unknown

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

ORPHA:2233Kr.
Unknown

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

ORPHA:2230Kr.
Autosomal dominant

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

ORPHA:2235Kr.
Unknown

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

ORPHA:293967Malf.
Autosomal recessive

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

ORPHA:528105Kr.
Autosomal recessive

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

ORPHA:363523Kr.
Autosomal recessive

Hypohidrotic ectodermal dysplasia

ORPHA:238468Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Hypohidrotic ectodermal dysplasia with immunodeficiency

ORPHA:98813Kr.
Autosomal dominant, X-linked recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Malf.
Autosomal recessive

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

ORPHA:69088Kr.
X-linked recessive

Hypoinsulinemic hypoglycemia and body hemihypertrophy

ORPHA:293964Kr.
Autosomal dominant

Hypokalemic periodic paralysis

ORPHA:681Kr.
Autosomal dominant

Hypomandibular faciocranial dysostosis

ORPHA:1790Malf.
Unknown

Hypomaturation amelogenesis imperfecta

ORPHA:100033Kl. subt.
Autosomal recessive, X-linked dominant

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

ORPHA:100034Kl. subt.
Autosomal dominant

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

ORPHA:137639Kl. subt.
Autosomal recessive

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Malf.
Autosomal recessive

Hypomyelination of early myelinating structures

ORPHA:599376Kr.
X-linked dominant