Rare Disease Library

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Neonatal hypoxic and ischemic brain injury

HIE · Hypoxic and ischemic brain injury in the newborn

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Perihilar cholangiocarcinoma

Hilar cholangiocarcinoma · Klatskin tumor

Sprengel deformity

High scapula

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

Acid sphingomyelinase deficiency

ASMD

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

Acquired schizencephaly

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

Acute basophilic leukemia

Acute megakaryoblastic leukemia in children with Down syndrome

DS-AMKL in children with trisomy 21 · Acute megakaryoblastic leukemia in children with trisomy 21

Acute megakaryoblastic leukemia in children without Down syndrome

Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia · AML

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

Acute myeloid leukemia · AML

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Adermatopathic dermatomyositis

Dermatomyositis sine dermatitis

ADNP-related blepharophimosis-intellectual disability syndrome

Adrenal Cushing syndrome

Adrenal CS

Adult familial nephronophthisis-spastic quadriparesia syndrome

Adult idiopathic neutropenia

Adult chronic idiopathic neutropenia

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Agnathia-holoprosencephaly-situs inversus syndrome

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Xia-Gibbs syndrome

Alternating hemiplegia of childhood

AHC

Alveolar echinococcosis

Echinococcus multilocularis infection

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

Amelocerebrohypohidrotic syndrome

Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome

Amoebiasis due to Entamoeba histolytica

Amyopathic dermatomyositis

Dermatomyositis sine myositis

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Angiomatoid fibrous histiocytoma

AFH

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

Annular atrophic lichen planus

Annular atrophic LP

Anonychia congenita totalis

Anonychia with flexural pigmentation

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome