Rare Disease Library

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Tungland-Bellman syndrome

Heart defect-tongue hamartoma-polysyndactyly syndrome

Ostravik-Lindemann-Solberg syndrome

Heart defects-limb shortening syndrome

Heart position anomaly

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Heart-hand syndrome, Slovenian type

Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Heavy chain deposition disease

HCDD

Heavy chain disease

HCD

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Helicoid peripapillary chorioretinal degeneration

Sveinsson chorioretinal atrophy · Atrophia areata

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Hemangioblastoma

Hematological disease associated with an acquired peripheral neuropathy

Hematological disorder with renal involvement

Heme oxygenase-1 deficiency

HO-1 deficiency

Hemi-myelomeningocele

Open split-cord malformation

Hemi-myeloschisis

Split cord malformation associated with myeloschisis

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemicrania continua

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemifacial hyperplasia

Hemifacial hypertrophy

Hemifacial myohyperplasia

Hemifacial spasm

Facial hemispasm · Focal myoclonus of face

Hemihyperplasia-multiple lipomatosis syndrome

HHML

Hemimegalencephaly

Unilateral megalencephaly

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

Hemoglobin C disease

HbCC disease

Hemoglobin C-beta-thalassemia syndrome

C-beta-thalassemia · HbC-beta-thalassemia syndrome

Hemoglobin D disease

Hemoglobin E disease

Hemoglobin E-beta-thalassemia syndrome

E-beta-thalassemia · HbE-beta-thalassemia syndrome

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hemoglobin Lepore-beta-thalassemia syndrome

HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Hemoglobinopathy

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to glutathione reductase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Pyruvate kinase deficiency of erythrocytes

Hemolytic disease due to fetomaternal alloimmunization

HDFN · Hemolytic disease of the fetus and newborn