Rare Disease Library

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Isolated splenogonadal fusion

SGF

Leukocyte adhesion deficiency

LAD

Leukocyte adhesion deficiency type I

LAD-I

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

Metabolic neurotransmission anomaly with epilepsy

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Microcephaly-cervical spine fusion anomalies syndrome

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

Neuronal intranuclear inclusion disease

Non-recovering obstetric brachial plexus lesion

Chronic obstetric brachial plexus injury · Chronic obstetric brachial plexus palsy

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

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine

OBSOLETE: Early infantile epileptic encephalopathy without suppression burst

OBSOLETE: Pigmented conjunctival lesion

OBSOLETE: Precancerous lesion of palpebral epidermis

OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome

Peritoneal inclusion cyst

Benign multicystic peritoneal mesothelioma · Multicystic mesothelioma

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

Primary effusion lymphoma

Body cavity-based lymphoma · PEL

Primary orthostatic hypotension

Progressive dementia with neuroserpin inclusion bodies

Late-onset familial encephalopathy with neuroserpin inclusion bodies

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

Early onset familial encephalopathy with neuroserpin inclusion bodies

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Cerebrorenal syndrome, Perez type

Pulmonary arterial hypertension

PAH · Pulmonary arterial hypertension

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

Pulmonary arterial hypertension associated with connective tissue disease

PAH · PAH associated with connective tissue disease

Pulmonary arterial hypertension associated with HIV infection

PAH · PAH associated with HIV infaction

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

Pulmonary arterial hypertension associated with schistosomiasis

PAH · PAH associated with schistosomiasis

Pulmonary hypertension owing to lung disease and/or hypoxia

PH due to lung disease and/or hypoxia · PH owing to lung disease and/or hypoxia

Pulmonary hypertension with unclear multifactorial mechanism

PH with unclear multifactorial mechanism

Rare cause of hypertension

Rare disorder due to unbalanced inter-twin blood transfusion

Rare genetic cause of hypertension

Rare pulmonary hypertension

RELA fusion-positive ependymoma

Supratentorial C11ORF95-RELA fused ependymoma

Renal tubular dysgenesis due to twin-twin transfusion

Spastic paraplegia-facial-cutaneous lesions syndrome

Bahemuka-Brown syndrome

Splenogonadal fusion-limb defects-micrognathia syndrome

SGFLD syndrome