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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:1566Malform.
Autosomal recessive

Danon disease

ORPHA:34587Disease
X-linked dominant

Darier disease

ORPHA:218Disease
Autosomal dominant

De Barsy syndrome

ORPHA:2962Disease
Autosomal recessive

De novo thrombotic microangiopathy after kidney transplantation

ORPHA:244275Situation

Deaf blind hypopigmentation syndrome, Yemenite type

ORPHA:3214Malform.
Autosomal recessive

Deafness with labyrinthine aplasia, microtia, and microdontia

ORPHA:90024Malform.
Autosomal recessive

Deafness-craniofacial syndrome

ORPHA:3241Malform.

Deafness-ear malformation-facial palsy syndrome

ORPHA:3232Malform.

Deafness-enamel hypoplasia-nail defects syndrome

ORPHA:3220Malform.
Autosomal recessive

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ORPHA:254898Disease
Autosomal recessive

Deafness-epiphyseal dysplasia-short stature syndrome

ORPHA:3218Malform.

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Malform.

Deafness-hypogonadism syndrome

ORPHA:90646Malform.

Deafness-infertility syndrome

ORPHA:94064Malform.
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Malform.
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Malform.

Deafness-onychodystrophy syndrome

ORPHA:3231Clin. grp.
Autosomal dominant, Autosomal recessive

Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217Disease

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Malform.
Autosomal recessive

Dedifferentiated liposarcoma

ORPHA:99970Hist. sub.
Not applicable

Deep dermatophytosis

ORPHA:397587Disease
Not applicable

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA:293978Disease
Autosomal dominant

Deficiency of adenosine deaminase 2

ORPHA:404553Disease
Autosomal recessive