Rare Disease Library

Infantile-onset ascending hereditary spastic paralysis

IAHSP

Isolated hereditary congenital facial paralysis

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

Keratitis fugax hereditaria

KFH · Keratoendotheliitis fugax hereditaria

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

Non-hereditary congenital primary lymphedema

Non-hereditary degenerative ataxia

Non-hereditary late-onset primary lymphedema

Meige-like disease

Non-hereditary retinoblastoma

OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh

OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor

OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary

OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features

OBSOLETE: Hereditary iron overload with anemia

OBSOLETE: Hereditary iron overload with neurologic manifestation

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome

OBSOLETE: Familial platelet disorder with predisposition to hematological cancer

OBSOLETE: Heredodegenerative disease with dystonia as a major feature

OBSOLETE: Rare hereditary iron overload disease

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy

Overhydrated hereditary stomatocytosis

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

Primary tethered cord syndrome

Primary tethered spinal cord syndrome

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

Pseudohypoparathyroidism without Albright hereditary osteodystrophy

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

Pure or complex hereditary spastic paraplegia

Pure or complex familial spastic paraplegia · Pure or complicated familial spastic paraplegia

Rare hereditary autoinflammatory disease

Rare hereditary connective tissue disease

Rare hereditary disease with avascular necrosis

Rare hereditary disease with peripheral neuropathy

Rare hereditary hemochromatosis

Iron overload disease

Rare hereditary metabolic disease with peripheral neuropathy

Rare hereditary neurologic disease with peripheral neuropathy

Rare hereditary systemic disease with peripheral neuropathy

Rare hereditary thrombophilia

RNASEH2B-related hereditary spastic paraplegia

Ribonuclease H2 subunit B-related hereditary spastic paraplegia

Scleredema

Buschke scleredema