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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
AICA-ribosiduria 
ALDH18A1-related de Barsy syndrome 
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
alpha-mannosidosis +  
ANE syndrome 
arthrogryposis-renal dysfunction-cholestasis syndrome +  
ASAH1-related sphingolipidosis +  
aspartylglucosaminuria 
autism spectrum disorder - epilepsy - arthrogryposis syndrome 
autosomal dominant deafness - onychodystrophy syndrome 
autosomal recessive cerebellar ataxia with late-onset spasticity 
autosomal recessive cutis laxa type 2 +  
B4GALT1-congenital disorder of glycosylation 
Bartholin duct cyst 
Bartholin gland neoplasm +  
beta-mannosidosis 
breast fibrocystic disease +   
breast neoplasm +   
CADDS 
CHIME syndrome 
classic homocystinuria 
Cockayne syndrome +  
COG1-congenital disorder of glycosylation 
COG7-congenital disorder of glycosylation 
creatine transporter deficiency 
cutaneous mycosis +   
cutis laxa +  
cutis laxa, autosomal dominant 3 
disorder of pilosebaceous unit +   
Ehlers-Danlos syndrome, musculocontractural type 
Ehlers-Danlos syndrome, spondylodysplastic type +  
encephalopathy due to sulfite oxidase deficiency +  
Fabry disease 
familial atypical multiple mole melanoma syndrome 
familial tumoral calcinosis +  
Fanconi anemia +  
free sialic acid storage disease, infantile form 
frontonasal dysplasia with alopecia and genital anomaly 
fucosidosis 
galactosialidosis 
gangliosidosis +  
Gaucher disease +   
glycosylphosphatidylinositol biosynthesis defect 15 
GM1 gangliosidosis type 1 
GNPTG-mucolipidosis 
Hurler syndrome 
Hurler-Scheie syndrome 
hyperphosphatasia-intellectual disability syndrome 
hypophosphatasia +  
ichthyosis prematurity syndrome 
inborn mitochondrial metabolism disorder +  
integumentary system benign neoplasm +   
integumentary system cancer +   
keratinization disease +   
keratoderma hereditarium mutilans 
Krabbe disease +  
Larsen-like syndrome, B3GAT3 type 
mandibuloacral dysplasia +  
mandibulofacial dysostosis with alopecia 
metachromatic leukodystrophy +  
MGAT2-congenital disorder of glycosylation 
mucolipidosis +  
mucolipidosis type II 
mucolipidosis type III, alpha/beta 
mucopolysaccharidosis +  
mucopolysaccharidosis type 2 +  
mucopolysaccharidosis type 3A 
mucopolysaccharidosis type 3B 
mucopolysaccharidosis type 3C 
mucopolysaccharidosis type 3D 
mucopolysaccharidosis type 4A 
mucopolysaccharidosis type 4B 
mucopolysaccharidosis type 6 +  
mucopolysaccharidosis type 7 
mucopolysaccharidosis-plus syndrome 
mucosulfatidosis 
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
multiple congenital anomalies-hypotonia-seizures syndrome 1 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
nail disorder +   
Neu-Laxova syndrome +  
Niemann-Pick disease +  
Nijmegen breakage syndrome 
Nijmegen breakage syndrome-like disorder 
occipital horn syndrome 
oligosaccharidosis +  
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
Peters plus syndrome 
pontocerebellar hypoplasia type 1 
Proteus-like syndrome 
PSAP-related sphingolipidosis +  
pseudohypoparathyroidism +  
pseudoxanthoma elasticum (inherited or acquired) +  
RFT1-congenital disorder of glycosylation 
Rombo syndrome 
Scheie syndrome 
sea-blue histiocyte syndrome 
SHORT syndrome 
sialidosis type 2 +  
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
SLC35A2-congenital disorder of glycosylation 
SLC39A8-CDG 
SSR4-congenital disorder of glycosylation 
sterol biosynthesis disorder +  
subcutaneous tissue disorder +   
temtamy preaxial brachydactyly syndrome 
transketolase deficiency 
Wiedemann-Rautenstrauch syndrome 
X-linked ichthyosis syndrome +  
XYLT1-congenital disorder of glycosylation 
Zellweger spectrum disorders +  

Synonyms
Exact Synonyms: DOID:0050441 ;   MSD ;   NCIT:C84908 ;   Orphanet:585 ;   http://identifiers.org/medgen/75664 ;   http://identifiers.org/mesh/D052517 ;   http://identifiers.org/snomedct/54898003 ;   http://linkedlifedata.com/resource/umls/id/C0268263 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/848083807 ;   https://omim.org/entry/272200
Related Synonyms: juvenile sulfatidosis ;   multiple sulfatase deficiency ;   sulfatidosis juvenile, Austin type
Alternate IDs: MONDO:0010088
Xrefs: DOID:0050441 ;   GARD:5061 ;   MEDGEN:75664 ;   MESH:D052517 ;   MIM:272200 ;   NANDO:1200083 ;   NANDO:1200624 ;   NANDO:2200566 ;   NCI:C84908 ;   NORD:1471
Definition Sources: Orphanet:585

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