Rare Disease Library

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

Microscopic polyangiitis

MPA · Micropolyangiitis

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Monomorphic epitheliotropic intestinal T-cell lymphoma

MEITL · Enteropathy-associated T-cell lymphoma type 2

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism

Niemann-Pick disease type C

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

Non-syndromic bicoronal and metopic craniosynostosis

Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic suture synostosis

Non-syndromic metopic and sagittal craniosynostosis

Isolated metopic and sagittal craniosynostosis · Non-syndromic metopic and sagittal suture synostosis

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Normosmic congenital hypogonadotropic hypogonadism

Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly

OBSOLETE: aHUS with B factor anomaly · OBSOLETE: D- HUS with B factor anomaly

OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly · OBSOLETE: aHUS with C3 anomaly

OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly

OBSOLETE: aHUS with H factor anomaly · OBSOLETE: D- HUS with H factor anomaly

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly

OBSOLETE: D- HUS with MCP/CD46 anomaly · OBSOLETE: Atypical HUS with MCP/CD46 anomaly

OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly

OBSOLETE: aHUS with thrombomodulin anomaly · OBSOLETE: D- HUS with thrombomodulin anomaly

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations

OBSOLETE: Epicanthal fold

OBSOLETE: Metatropic dysplasias

OBSOLETE: Microscopic colitis

OBSOLETE: Niemann-Pick disease type E

Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

Berti lymphoma · Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

Rare disorder with hypergonadotropic hypogonadism

Rare disorder with primary hypogonadism

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

Rare female infertility due to a congenital hypogonadotropic hypogonadism

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Somatotropic adenoma

Somatotropinoma

Syndromic epicanthus

Tropical endomyocardial fibrosis

Davies disease · TEMF

Tropical pancreatitis

TCP · Tropical calcific chronic pancreatitis

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

Typical nemaline myopathy

Typical urticaria pigmentosa