Rare Disease Library

Classic lissencephaly

Lissencephaly type 1

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic medulloblastoma

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

Classic mycosis fungoides

Mycosis fungoides, Alibert-Bazin type

Classic neuroendocrine tumor of appendix

Classic appendix neuroendocrine tumor · Classic appendiceal neuroendocrine tumor

Classic organic aciduria

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

Classic phenylketonuria

Classic PKU · PKU

Classic pilocytic astrocytoma

Juvenile pilocytic astrocytoma

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Classic pyoderma gangrenosum

Ulcerative pyoderma gangrenosum

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical dermatomyositis

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Clear cell adenocarcinoma of the ovary

Ovarian clear cell adenocarcinoma

Clear cell papillary renal cell carcinoma

Kidney cancer · RCC

Clear cell renal carcinoma

CCRCC · Clear cell renal cell adenocarcinoma

Clear cell sarcoma of kidney

CCSK

Cleft hard palate

Cleft lip and alveolus

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Cleft lip with or without cleft palate

Tessier cleft number 1,2

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

McPherson-Clemens syndrome

Cleft mitral valve

Cleft palate

Cleft palate-congenital heart defect-intellectual disability syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

Cleft palate-stapes fixation-oligodontia syndrome

Cleft velum

Cleft velum palatinum · Cleft soft palate

Cleidocranial dysplasia

Cleidocranial dysostosis

Cleidocranial dysplasia and isolated cranial ossification defect

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

CLIPPERS

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10