Rare Disease Library

Genetic autoinflammatory syndrome with skin involvement

Genetic hyperpigmentation of the skin

Genetic hypopigmentation of the skin

Genetic immune deficiency with skin involvement

Genetic pigmentation anomaly of the skin

Genetic skin tumor or hamartoma

Genetic skin vascular disorder

Glycerol kinase deficiency

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Granulomatous slack skin

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Pyruvate kinase deficiency of erythrocytes

Hereditary hypotrichosis with recurrent skin vesicles

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

Hereditary sensorimotor neuropathy with hyperelastic skin

Hodgkin lymphoma

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Hyperpigmentation of the skin

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypopigmentation of the skin

Immune deficiency with skin involvement

Indolent B-cell non-Hodgkin lymphoma

Indolent B-cell NHL

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Infantile epileptic-dyskinetic encephalopathy

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Infantile-onset generalized dyskinesia with orofacial involvement

Infantile-onset orofacial-trunk-limbs dyskinesia

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

Isolated glycerol kinase deficiency

Hyperglycerolemia

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Jessner lymphocytic infiltration of the skin

Jessner-Kanof lymphocytic infiltration of the skin

Lissencephaly type 3-familial fetal akinesia sequence syndrome

Metabolic disease with skin involvement

Mevalonate kinase deficiency

MKD

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

Mucopolysaccharidosis with skin involvement

MPS with skin involvement