MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Мальформация
Autosomal dominant

Hypoglossia-hypodactyly syndrome

ORPHA:989Мальформация
Unknown

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

ORPHA:293967Мальформация
Autosomal recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Мальформация
Autosomal recessive

Hypomandibular faciocranial dysostosis

ORPHA:1790Мальформация
Unknown

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Мальформация
Autosomal recessive

Hypomyelination-congenital cataract syndrome

ORPHA:85163Мальформация
Autosomal recessive

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

ORPHA:2237Мальформация
Autosomal dominant

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

ORPHA:293864Мальформация
Autosomal recessive

Hypospadias-intellectual disability, Goldblatt type syndrome

ORPHA:2261Мальформация

Hypotrichosis with juvenile macular degeneration

ORPHA:1573Мальформация
Autosomal recessive

ICF syndrome

ORPHA:2268Мальформация
Autosomal recessive

IMAGe syndrome

ORPHA:85173Мальформация
Autosomal dominant, Autosomal recessive

IVIC syndrome

ORPHA:2307Мальформация
Autosomal dominant

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

ORPHA:2278Мальформация

Ichthyosis-oral and digital anomalies syndrome

ORPHA:2272Мальформация
Autosomal recessive

Idiopathic juvenile osteoporosis

ORPHA:85193Мальформация
Multigenic/multifactorial, Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Мальформация
Autosomal dominant

Imperforate oropharynx-costovertebral anomalies syndrome

ORPHA:2759Мальформация

Incontinentia pigmenti

ORPHA:464Мальформация
X-linked dominant

Indomethacin embryofetopathy

ORPHA:1909Мальформация
Not applicable

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Мальформация
Autosomal recessive

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Мальформация
Autosomal recessive

Intellectual disability, Buenos-Aires type

ORPHA:3079Мальформация