| Parent Terms |
Term With Siblings |
Child Terms |
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2-hydroxyglutaric aciduria +
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
abdominal obesity-metabolic syndrome +
ALDH18A1-related de Barsy syndrome
apolipoprotein c-III deficiency
aromatase excess syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome +
ASAH1-related disorders +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autosomal dominant dopa-responsive dystonia +
autosomal dominant myoglobinuria
autosomal dominant proximal renal tubular acidosis
autosomal recessive cutis laxa type 2 +
autosomal recessive proximal renal tubular acidosis
B4GALT1-congenital disorder of glycosylation
chondrodysplasia with joint dislocations, gPAPP type
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
congenital disorder of deglycosylation +
congenital disorder of glycosylation +
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
creatine transporter deficiency
cutis laxa, autosomal dominant 3
disorder of lysosomal-related organelles +
disorder of metabolite absorption and transport +
disorder of peptide and amine metabolism +
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, arthrochalasia type +
Ehlers-Danlos syndrome, arthrochalasic type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type +
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, periodontitis type +
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylodysplastic type + A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Ehlers-Danlos syndrome, vascular type +
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos/osteogenesis imperfecta syndrome +
encephalopathy due to sulfite oxidase deficiency +
familial hypocalciuric hypercalcemia +
familial hypoparathyroidism +
familial intrahepatic cholestasis +
ferro-cerebro-cutaneous syndrome
gluthathione peroxidase deficiency
glycoprotein metabolism disease +
glycosylphosphatidylinositol biosynthesis defect 15
hemolytic anemia due to diphosphoglycerate mutase deficiency
hereditary lipodystrophy +
hereditary recurrent myoglobinuria +
Hernández-Aguirre Negrete syndrome
hypercalcemia, infantile +
hypermanganesemia with dystonia +
hyperphosphatasia-intellectual disability syndrome
hypoalphalipoproteinemia, primary, 1
hypotonia-failure to thrive-microcephaly syndrome
inborn aminoacylase deficiency +
inborn carbohydrate metabolic disorder +
inborn disorder of amino acid and other organic acid metabolism +
inborn disorder of amino acid metabolism +
inborn disorder of biogenic amine metabolism and transport +
inborn disorder of energy metabolism +
inborn disorder of porphyrin metabolism +
inborn disorder of purine or pyrimidine metabolism +
inborn glycerol kinase deficiency +
inborn metal metabolism disorder +
inborn mitochondrial metabolism disorder +
inherited lipid metabolism disorder +
inherited thyroid metabolism disease +
kyphoscoliotic Ehlers-Danlos syndrome
Larsen-like syndrome, B3GAT3 type
lysosomal storage disease +
mandibuloacral dysplasia +
MGAT2-congenital disorder of glycosylation
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple epiphyseal dysplasia type 4
NAD(P)HX dehydratase deficiency
neurodegeneration with brain iron accumulation +
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
normophosphatemic familial tumoral calcinosis
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
plasma protein metabolism disease +
pontocerebellar hypoplasia type 1
pseudohypoparathyroidism +
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
RFT1-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
spondyloepimetaphyseal dysplasia, PAPSS2 type
spondyloepiphyseal dysplasia with congenital joint dislocations
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
sulfation-related bone disorder
sulfide quinone oxidoreductase deficiency
temtamy preaxial brachydactyly syndrome
thiopurine metabolic disease +
tumoral calcinosis, hyperphosphatemic, familial, 2
tumoral calcinosis, hyperphosphatemic, familial, 3
vitamin metabolic disorder +
Waldenstrom macroglobulinemia
Wiedemann-Rautenstrauch syndrome
X-linked Ehlers-Danlos syndrome
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
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| Synonyms |
| Exact Synonyms: |
B4GALT7-CDG
;
EDS, progeroid type
;
PDS
;
defective biosynthesis of proteodermatan sulphate
;
galactosyltransferase I deficiency
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| Narrow Synonyms: |
EDSSPD1
;
Ehlers-Danlos syndrome with short stature and limb anomalies
;
Ehlers-Danlos syndrome, spondylodysplastic type, 1
;
Pds, defective biosynthesis of
;
XGPT deficiency
;
dermatan sulfate proteoglycan
;
dermatan sulphate proteoglycan
;
galactosyltransferase 1 deficiency
;
proteodermatan sulfate, defective biosynthesis of
;
xylosylprotein 4-beta-galactosyltransferase deficiency
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| Related Synonyms: |
Ehlers-Danlos syndrome, progeroid type
;
Ehlers-Danlos syndrome, progeroid type (former)
;
spondylodysplastic Ehlers-Danlos syndrome
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| Alternate IDs: |
MONDO:0007526
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| Xrefs: |
DOID:0050802
;
GARD:9991
;
MESH:C536201
;
ORDO:75496
;
SCTID:720861000 |
| Definition Sources: |
Orphanet:75496 |
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