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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Hypodontia-dysplasia of nails syndrome

ORPHA:2228Мальф.
Autosomal dominant

Hypoglossia-hypodactyly syndrome

ORPHA:989Мальф.
Unknown

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

ORPHA:293967Мальф.
Autosomal recessive

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882Мальф.
Autosomal recessive

Hypomandibular faciocranial dysostosis

ORPHA:1790Мальф.
Unknown

Hypomyelination neuropathy-arthrogryposis syndrome

ORPHA:2680Мальф.
Autosomal recessive

Hypomyelination-congenital cataract syndrome

ORPHA:85163Мальф.
Autosomal recessive

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

ORPHA:2237Мальф.
Autosomal dominant

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

ORPHA:293864Мальф.
Autosomal recessive

Hypospadias-intellectual disability, Goldblatt type syndrome

ORPHA:2261Мальф.

Hypotrichosis with juvenile macular degeneration

ORPHA:1573Мальф.
Autosomal recessive

ICF syndrome

ORPHA:2268Мальф.
Autosomal recessive

IMAGe syndrome

ORPHA:85173Мальф.
Autosomal dominant, Autosomal recessive

IVIC syndrome

ORPHA:2307Мальф.
Autosomal dominant

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

ORPHA:2278Мальф.

Ichthyosis-oral and digital anomalies syndrome

ORPHA:2272Мальф.
Autosomal recessive

Idiopathic juvenile osteoporosis

ORPHA:85193Мальф.
Multigenic/multifactorial, Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Мальф.
Autosomal dominant

Imperforate oropharynx-costovertebral anomalies syndrome

ORPHA:2759Мальф.

Incontinentia pigmenti

ORPHA:464Мальф.
X-linked dominant

Indomethacin embryofetopathy

ORPHA:1909Мальф.
Not applicable

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Мальф.
Autosomal recessive

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Мальф.
Autosomal recessive

Intellectual disability, Buenos-Aires type

ORPHA:3079Мальф.