Rare Disease Library

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Brachydactyly-short stature-retinitis pigmentosa syndrome

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Dermatopathia pigmentosa reticularis

Disorder of pentose phosphate metabolism

Disorders of pentose/polyol metabolism

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Lichen planus pigmentosus

LP pigmentosa · LP pigmentosus

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

Nodular urticaria pigmentosa

Non-syndromic unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

OBSOLETE: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Plaque-form urticaria pigmentosa

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Retinal ciliopathy due to mutation in RP1 gene

Retinitis pigmentosa

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Typical urticaria pigmentosa

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

X-linked intellectual disability, Stocco Dos Santos type

Xeroderma pigmentosum

Xeroderma pigmentosum variant

XPV

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex