MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Malf.
Autosomal dominant

Hypoglossia-hypodactyly syndrome

ORPHA:989Malf.
Unknown

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

ORPHA:293967Malf.
Autosomal recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Malf.
Autosomal recessive

Hypomandibular faciocranial dysostosis

ORPHA:1790Malf.
Unknown

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Malf.
Autosomal recessive

Hypomyelination-congenital cataract syndrome

ORPHA:85163Malf.
Autosomal recessive

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

ORPHA:2237Malf.
Autosomal dominant

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

ORPHA:293864Malf.
Autosomal recessive

Hypospadias-intellectual disability, Goldblatt type syndrome

ORPHA:2261Malf.

Hypotrichosis with juvenile macular degeneration

ORPHA:1573Malf.
Autosomal recessive

ICF syndrome

ORPHA:2268Malf.
Autosomal recessive

IMAGe syndrome

ORPHA:85173Malf.
Autosomal dominant, Autosomal recessive

IVIC syndrome

ORPHA:2307Malf.
Autosomal dominant

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

ORPHA:2278Malf.

Ichthyosis-oral and digital anomalies syndrome

ORPHA:2272Malf.
Autosomal recessive

Idiopathic juvenile osteoporosis

ORPHA:85193Malf.
Multigenic/multifactorial, Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Malf.
Autosomal dominant

Imperforate oropharynx-costovertebral anomalies syndrome

ORPHA:2759Malf.

Incontinentia pigmenti

ORPHA:464Malf.
X-linked dominant

Indomethacin embryofetopathy

ORPHA:1909Malf.
Not applicable

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Malf.
Autosomal recessive

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Malf.
Autosomal recessive

Intellectual disability, Buenos-Aires type

ORPHA:3079Malf.