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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 1,772 заболеваний (Malform.) Сброс

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Malform.
Autosomal dominant

Hypoglossia-hypodactyly syndrome

ORPHA:989Malform.
Unknown

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

ORPHA:293967Malform.
Autosomal recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Malform.
Autosomal recessive

Hypomandibular faciocranial dysostosis

ORPHA:1790Malform.
Unknown

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Malform.
Autosomal recessive

Hypomyelination-congenital cataract syndrome

ORPHA:85163Malform.
Autosomal recessive

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

ORPHA:2237Malform.
Autosomal dominant

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

ORPHA:293864Malform.
Autosomal recessive

Hypospadias-intellectual disability, Goldblatt type syndrome

ORPHA:2261Malform.

Hypotrichosis with juvenile macular degeneration

ORPHA:1573Malform.
Autosomal recessive

ICF syndrome

ORPHA:2268Malform.
Autosomal recessive

IMAGe syndrome

ORPHA:85173Malform.
Autosomal dominant, Autosomal recessive

IVIC syndrome

ORPHA:2307Malform.
Autosomal dominant

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

ORPHA:2278Malform.

Ichthyosis-oral and digital anomalies syndrome

ORPHA:2272Malform.
Autosomal recessive

Idiopathic juvenile osteoporosis

ORPHA:85193Malform.
Multigenic/multifactorial, Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Malform.
Autosomal dominant

Imperforate oropharynx-costovertebral anomalies syndrome

ORPHA:2759Malform.

Incontinentia pigmenti

ORPHA:464Malform.
X-linked dominant

Indomethacin embryofetopathy

ORPHA:1909Malform.
Not applicable

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Malform.
Autosomal recessive

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Malform.
Autosomal recessive

Intellectual disability, Buenos-Aires type

ORPHA:3079Malform.