MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Dandy-Walker malformation-postaxial polydactyly syndrome

ORPHA:1566Мальформация
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:244275Особая клин. ситуация

Deaf blind hypopigmentation syndrome, Yemenite type

ORPHA:3214Мальформация
Autosomal recessive

Deafness with labyrinthine aplasia, microtia, and microdontia

ORPHA:90024Мальформация
Autosomal recessive

Deafness-craniofacial syndrome

ORPHA:3241Мальформация

Deafness-ear malformation-facial palsy syndrome

ORPHA:3232Мальформация

Deafness-enamel hypoplasia-nail defects syndrome

ORPHA:3220Мальформация
Autosomal recessive

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ORPHA:254898Заболевание
Autosomal recessive

Deafness-epiphyseal dysplasia-short stature syndrome

ORPHA:3218Мальформация

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Мальформация

Deafness-hypogonadism syndrome

ORPHA:90646Мальформация

Deafness-infertility syndrome

ORPHA:94064Мальформация
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Мальформация
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Мальформация

Deafness-onychodystrophy syndrome

ORPHA:3231Клин. группа
Autosomal dominant, Autosomal recessive

Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217Заболевание

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Мальформация
Autosomal recessive

Dedifferentiated liposarcoma

ORPHA:99970Гист. подтип
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