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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

Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165Malform.

Holoprosencephaly-craniosynostosis syndrome

ORPHA:2163Malform.

Holoprosencephaly-postaxial polydactyly syndrome

ORPHA:2166Malform.
Autosomal recessive

Holoprosencephaly-radial heart renal anomalies syndrome

ORPHA:3186Malform.

Holt-Oram syndrome

ORPHA:392Malform.
Autosomal dominant

Holzgreve syndrome

ORPHA:2167Malform.

Humerus trochlea aplasia

ORPHA:3383Malform.

Hunter-McAlpine syndrome

ORPHA:97340Malform.

Hydranencephaly

ORPHA:2177Malform.
Autosomal recessive, Unknown

Hydrocephalus-blue sclerae-nephropathy syndrome

ORPHA:2186Malform.
Unknown

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

ORPHA:2180Malform.
Unknown

Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183Malform.
X-linked recessive

Hydrocephaly-cerebellar agenesis syndrome

ORPHA:1397Malform.
X-linked recessive

Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184Malform.

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181Malform.
Autosomal recessive

Hydrolethalus

ORPHA:2189Malform.
Autosomal recessive

Hydrops fetalis

ORPHA:1041Malform.
Not applicable

Hyperandrogenism due to cortisone reductase deficiency

ORPHA:168588Malform.
Autosomal dominant, Autosomal recessive

Hypergonadotropic hypogonadism-cataract syndrome

ORPHA:2410Malform.
Autosomal recessive

Hyperostosis corticalis generalisata

ORPHA:3416Malform.
Autosomal dominant, Autosomal recessive

Hypertelorism-hypospadias-polysyndactyly syndrome

ORPHA:2211Malform.
Autosomal recessive

Hypertelorism-microtia-facial clefting syndrome

ORPHA:2213Malform.
Autosomal recessive

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

ORPHA:293958Malform.
Autosomal dominant

Hypertrichosis cubiti

ORPHA:2220Malform.
Autosomal dominant