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syndromic dyslipidemia

Disease Summary
Associated Targets (87)
Tbio

61

Tchem

16

Tclin

9

Tdark

1


Explore Associated Targets
Mondo Description A inherited lipid metabolism disorder that is part of a larger syndrome.
Mondo Term and Equivalent IDs
MONDO:0015905:  syndromic dyslipidemia
Orphanet:181437: 
SCTID:109041000119107: 
UMLS:C3875286: 
GWAS Targets (0)
 No GWAS traits found
Disease Hierarchy
Parents
syndromic disease (5200)
Tbio

3563

Tchem

726

Tdark

516

Tclin

395

inherited lipid metabolism disorder (586)
Tbio

382

Tchem

119

Tclin

73

Tdark

12

Children
hyperphosphatasia-intellectual disability syndrome (7)
Tbio

7

developmental and epileptic encephalopathy, 1 (5)
Tclin

2

Tbio

2

Tchem

1

mevalonate kinase deficiency (5)
Tbio

3

Tclin

1

Tchem

1

rhizomelic chondrodysplasia punctata (4)
Tbio

3

Tchem

1

sitosterolemia (3)
Tbio

2

Tclin

1

Sengers syndrome (3)
Tbio

3

mucosulfatidosis (3)
Tbio

3

X-linked chondrodysplasia punctata (3)
Tbio

2

Tchem

1

long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (3)
Tbio

2

Tdark

1

pyruvate dehydrogenase E3 deficiency (2)
Tbio

2

developmental and epileptic encephalopathy, 2 (2)
Tchem

1

Tbio

1

Fabry disease (2)
Tclin

1

Tchem

1

Barth syndrome (2)
Tbio

2

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency (2)
Tchem

2

developmental and epileptic encephalopathy, 31 (2)
Tbio

2

apparent mineralocorticoid excess syndrome (1)
Tchem

1

cerebrotendinous xanthomatosis (1)
Tchem

1

GM1 gangliosidosis type 1 (1)
Tchem

1

pantothenate kinase-associated neurodegeneration (1)
Tbio

1

sea-blue histiocyte syndrome (1)
Tbio

1

Sjogren-Larsson syndrome (1)
Tbio

1

Smith-Lemli-Opitz syndrome (1)
Tchem

1

Dorfman-Chanarin disease (1)
Tbio

1

lysosomal acid lipase deficiency (1)
Tchem

1

CHIME syndrome (1)
Tbio

1

developmental and epileptic encephalopathy, 9 (1)
Tbio

1

developmental and epileptic encephalopathy, 8 (1)
Tbio

1

multiple congenital anomalies-hypotonia-seizures syndrome 2 (1)
Tbio

1

MEND syndrome (1)
Tchem

1

Gaucher disease perinatal lethal (1)
Tclin

1

neuronal ceroid lipofuscinosis 8 northern epilepsy variant (1)
Tbio

1

lipoprotein glomerulopathy (1)
Tbio

1

hereditary spastic paraplegia 39 (1)
Tbio

1

PHARC syndrome (1)
Tchem

1

developmental and epileptic encephalopathy, 5 (1)
Tbio

1

developmental and epileptic encephalopathy, 12 (1)
Tbio

1

multiple congenital anomalies-hypotonia-seizures syndrome 1 (1)
Tbio

1

hereditary sensory neuropathy-deafness-dementia syndrome (1)
Tclin

1

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome (1)
Tbio

1

lipoic acid synthetase deficiency (1)
Tbio

1

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (1)
Tbio

1

developmental and epileptic encephalopathy, 15 (1)
Tbio

1

multiple congenital anomalies-hypotonia-seizures syndrome 3 (1)
Tbio

1

developmental and epileptic encephalopathy, 23 (1)
Tbio

1

developmental and epileptic encephalopathy, 27 (1)
Tclin

1

fatty acyl-CoA reductase 1 deficiency (1)
Tbio

1

developmental and epileptic encephalopathy, 30 (1)
Tchem

1

multiple mitochondrial dysfunctions syndrome 4 (1)
Tbio

1

microcephaly-congenital cataract-psoriasiform dermatitis syndrome (1)
Tbio

1

intellectual disability, autosomal recessive 53 (1)
Tbio

1

developmental and epileptic encephalopathy, 40 (1)
Tbio

1

developmental and epileptic encephalopathy, 43 (1)
Tclin

1

dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (1)
Tbio

1

syndromic recessive X-linked ichthyosis (1)
Tchem

1

fatty acid hydroxylase-associated neurodegeneration (1)
Tbio

1

GM3 synthase deficiency (1)
Tbio

1

nephrotic syndrome 14 (1)
Tchem

1

glycosylphosphatidylinositol biosynthesis defect 15 (1)
Tbio

1

developmental and epileptic encephalopathy, 73 (0)
autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction (0)
Target Novelty (Tin-x)
 No novelty measurements found