Rare Disease Library

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Dandy-Walker malformation-facial hemangioma syndrome

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

DDX41-related hematologic malignancy predisposition syndrome

Deafness-ear malformation-facial palsy syndrome

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

Deep dermatophytosis

Disseminated granulomatous dermatophytosis

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Dermatitis herpetiformis

Duhring-Brocq disease

Dermato-cardio-skeletal syndrome, Borrone type

Dermatofibrosarcoma protuberans

DFSP

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

Dermatomyositis

Adult dermatomyositis

Dermatoosteolysis, Kirghizian type

Dermatopathia pigmentosa reticularis

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

Desquamative interstitial pneumonia

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Diaphragmatic hernia-short bowel-asplenia syndrome

Diaphragmatic or abdominal wall malformation

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

Digenic hemochromatosis

Digestive tract malformation

Discoid lupus erythematosus

Discrete papular lichen myxedematosus

Disseminated peritoneal leiomyomatosis

DPL · Diffuse peritoneal leiomyomatosis

Distomatosis

Distomiasis · Fluke infection

Drug-induced lupus erythematosus

DILE

Dural sinus malformation with arteriovenous shunt

Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

Dyschromatosis universalis hereditaria

Dysspondyloenchondromatosis

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

Eccrine angiomatous hamartoma

EAH · Eccrine angiomatous nevus

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Eosinophilic granulomatosis with polyangiitis

Churg-Strauss syndrome · EGPA

Erosive pustular dermatosis of the scalp

Erythroderma desquamativum

Leiner disease

Esophageal malformation

Malformation of the esophagus

Extragonadal non-dysgerminomatous germ cell tumor

F12-associated cold autoinflammatory syndrome

FACAS