Rare Disease Library

Heart defects-limb shortening syndrome

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

POIKTMP syndrome

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary persistence of alpha-fetoprotein

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

HPFH-beta-thalassemia syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Idiopathic intracranial hypertension

Benign intracranial hypertension · IIH

Idiopathic pulmonary arterial hypertension

IPAH · PAH

Idiopathic subglottic stenosis

iSGS

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Intermittent hydrarthrosis

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

Intermittent neutropenia

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Isolated congenital nasal pyriform aperture stenosis

Isolated apertura pyriformis stenosis · Isolated nasal pyriform aperture hypoplasia

Isolated persistent urogenital sinus

Isolated PUGS

Lichtenstein syndrome

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

Medulloblastoma with extensive nodularity

MBEN

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

MPPC syndrome

Mietens syndrome

Intellectual disability, Mietens-Weber type

Mitochondrial DNA maintenance syndrome

mtDNA maintenance syndrome

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Multifocal infantile hemangioma with extracutenous involvement

Diffuse neonatal hemangiomatosis

Multilocular cystic renal neoplasm of low malignant potential

Multilocular cystic renal cell adenocarcinoma · Multilocular cystic renal cell carcinoma

Non-specific autoimmune supratentorial encephalitis with characteristic antibodies

Non-specific supratentorial AE with characteristic antibodies

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

Non-specific supratentorial AE without characteristic antibodies

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

OBSOLETE: APC-related attenuated familial adenomatous polyposis

OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis

OBSOLETE: Channelopathy due to a transient receptor potential channel defect

OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly

OBSOLETE: Apertura pyriformis with holoprosencephaly

OBSOLETE: Congenital vascular bone syndrome with limb shortening

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features

OBSOLETE: Extensive peripapillary myelinated nerve fibers

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome

OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy

OBSOLETE: Kashani-Strom-Utley syndrome