Rare Disease Library

Familial renal glucosuria

Familial renal glycosuria · SGLT2 deficiency

Folliculotropic mycosis fungoides

Mycosis fungoides-associated follicular mucinosis

Fucosidosis

Alpha-L-fucosidase deficiency

Glucose transport disorder

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Imperforate oropharynx-costovertebral anomalies syndrome

Seghers syndrome

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract-microcornea-renal glycosuria syndrome

Late-onset combined immunodeficiency due to ICOS deficiency

Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

Late-onset combined immunodeficiency due to ICOSL deficiency

Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency

Malignant melanoma of the mucosa

Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure · Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure

Mycosis fungoides and variants

OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

Paracoccidioidomycosis

Polyclonal hyperviscosity syndrome

Polyglucosan body myopathy type 1

PGBM1

Polyglucosan body myopathy type 2

Psittacosis

Ornithosis · Parrot fever

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Qualitative or quantitative defects of protein glycosyltransferase-like

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase

Qualitative or quantitative defects of protein POMGNT1

Rare developmental defect with skin/mucosae involvement

Rare mucosal lichen planus

Rare mucosal LP

Rare mycosis

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

Submucosal cleft palate

Talaromycosis

Talaromyces marneffei infection · Penicilliosis

Unilateral congenital megacalycosis

Zygomycosis

Mucormycosis