Rare Disease Library

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Congenital isolated ACTH deficiency

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Familial GPIHBP1 deficiency

Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Late-onset isolated ACTH deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency