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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Dandy-Walker malformation-postaxial polydactyly syndrome

ORPHA:1566Порок
Autosomal recessive

Danon disease

ORPHA:34587Заболевание
X-linked dominant

Darier disease

ORPHA:218Заболевание
Autosomal dominant

De Barsy syndrome

ORPHA:2962Заболевание
Autosomal recessive

De novo thrombotic microangiopathy after kidney transplantation

ORPHA:244275Ситуация

Deaf blind hypopigmentation syndrome, Yemenite type

ORPHA:3214Порок
Autosomal recessive

Deafness with labyrinthine aplasia, microtia, and microdontia

ORPHA:90024Порок
Autosomal recessive

Deafness-craniofacial syndrome

ORPHA:3241Порок

Deafness-ear malformation-facial palsy syndrome

ORPHA:3232Порок

Deafness-enamel hypoplasia-nail defects syndrome

ORPHA:3220Порок
Autosomal recessive

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ORPHA:254898Заболевание
Autosomal recessive

Deafness-epiphyseal dysplasia-short stature syndrome

ORPHA:3218Порок

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Порок

Deafness-hypogonadism syndrome

ORPHA:90646Порок

Deafness-infertility syndrome

ORPHA:94064Порок
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Порок
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Порок

Deafness-onychodystrophy syndrome

ORPHA:3231Клин. гр.
Autosomal dominant, Autosomal recessive

Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217Заболевание

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Порок
Autosomal recessive

Dedifferentiated liposarcoma

ORPHA:99970Гист. подт.
Not applicable

Deep dermatophytosis

ORPHA:397587Заболевание
Not applicable

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA:293978Заболевание
Autosomal dominant

Deficiency of adenosine deaminase 2

ORPHA:404553Заболевание
Autosomal recessive