Rare Disease Library

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Dextrocardia

Diabetic embryopathy

Diabetes-induced teratogenicity

Dianzani autoimmune lymphoproliferative disease

DALD

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Diaphanospondylodysostosis

DSD

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Diaphragmatic hernia-short bowel-asplenia syndrome

Diaphragmatic or abdominal wall malformation

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

Diastrophic dysplasia

Diastrophic dwarfism

Diazoxide-resistant diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form

Diazoxide-resistant hyperinsulinism

Diazoxide-resistant hyperinsulinemic hypoglycemia

Diazoxide-sensitive diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form

Dicarboxylic aminoaciduria

Glutamate-aspartate transport defect

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Didelphys uterus

Bicervical bicornuate uterus

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Diencephalic-mesencephalic junction dysplasia

Dietary iron overload disease

African iron overload · Bantu siderosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development of gynecological interest

DSD of gynecological interest · Disorder of sex development of gynecological interest

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Differentiated thyroid carcinoma

Papillary or follicular thyroid carcinoma · Well-differentiated thyroid carcinoma

Diffuse alveolar hemorrhage

Diffuse astrocytoma

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Diffuse cutaneous mastocytosis

DCM · Diffuse cutaneous maculopapulous mastocytosis

Diffuse cutaneous systemic sclerosis

Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

Diffuse intrinsic pontine glioma

DIPG

Diffuse large B-cell lymphoma

Diffuse large B-cell lymphoma · DLBCL

Diffuse large B-cell lymphoma of the central nervous system

Diffuse large B-cell lymphoma · DLBCL

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

Diffuse leptomeningeal melanocytosis

DLM · Leptomeningeal melanomatosis

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris