Rare Disease Library

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome

Dandy-Walker malformation-facial hemangioma syndrome

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Dappled diaphyseal dysplasia

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DDX41-related hematologic malignancy predisposition syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

De novo thrombotic microangiopathy after kidney transplantation

De Sanctis-Cacchione syndrome

Xeroderma pigmentosum with neurologic manifestation

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Dedifferentiated liposarcoma

DDLS

Deep dermatophytosis

Disseminated granulomatous dermatophytosis

Defect in conserved oligomeric Golgi complex

Defect in COG complex

Defect in V-ATPase

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Deficient breast volume or number

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

Delayed membranous cranial ossification

Gonzales-del Angel syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Delta-beta-thalassemia

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

Demodicidosis

Demodicosis

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dendritic cell sarcoma not otherwise specified