Mondo Disease Ontology
1974 terms(s) returned
| Term Type: | Record: 1 to 50 of 1974 Records | Page: 1 of 40, First Previous Next Last | Show Records Per Page |
- SAMD9-related spectrum and myeloid neoplasm risk
- SAMD9L-associated autoinflammatory syndrome
- SAMD9L-related spectrum and myeloid neoplasm risk
- SAMHD1-related type 1 interferonopathy
- SAPHO syndrome
- SATB2 associated disorder
- SBDS-related severe neonatal spondylometaphyseal dysplasia
- SCARF syndrome
- SCN4A-related channelopathy
- SCN4A-related myopathy, autosomal recessive
- SCN5A-related cardiac rhythm disorder
- SDCCAG8-related ciliopathy
- SDHC-related Mitochondrial Disease
- SEC61A1 deficiency
- SEC61B-related polycystic liver disease
- SELENON-related myopathy
- SERAC1-related neurological disorder
- SERKAL syndrome
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
- SF3B4-related acrofacial dysostosis
- SFTPC-related interstitial lung disease
- SHORT syndrome
- SHOX-related short stature
- SIM1-related Prader-Willi-like syndrome
- SIN3A-related intellectual disability syndrome
- SIN3A-related intellectual disability syndrome due to a point mutation
- SLC10A7-congenital disorder of glycosylation
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- SLC26A2-related skeletal dysplasia
- SLC35A1-congenital disorder of glycosylation
- SLC35A2-congenital disorder of glycosylation
- SLC39A8-CDG
- SLC6A3-related dopamine transporter deficiency syndrome
- SMARCA4-deficient sarcoma of thorax
- SMARCB1-deficient kidney medullary carcinoma
- SMARCB1-related schwannomatosis
- SMARCC1-associated developmental dysgenesis syndrome
- SNRNP200-related dominant retinopathy
- SNUPN-related muscular dystrophy with or without multi-system involvement
- SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
- SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
- SPAST-related motor disorder
- SPATA7-related retinopathy
- SQSTM1-related multisystem proteinopathy
- SRD5A3-congenital disorder of glycosylation
- SSR3-CDG
- SSR4-congenital disorder of glycosylation
- ST-elevation myocardial infarction
- ST2 diffuse large B-cell lymphoma
