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Disease association ontology term - MONDO:0015159 - multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Term summary

ID
MONDO:0015159
Name
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Ontology or CV name
Disease association

Parents

Annotation

Disease association

MONDO:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

References:

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

References:

Genes:

MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type

References:

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

References:

Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

References:

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

References:

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

References:

Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

References:

Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

References:

Genes:

MONDO:0014507 - Catel-Manzke syndrome

References:

Genes:

MONDO:0014529 - cerebellar-facial-dental syndrome

References:

Genes:

MONDO:0044701 - childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

References:

Genes:

MONDO:0010221 - CHIME syndrome

References:

Genes:

MONDO:0013256 - chromosome 15q24 deletion syndrome

References:

Genes:

MONDO:0015452 - Coffin-Siris syndrome

References:

Genes:

MONDO:0007617 - Coffin-Siris syndrome 1

References:

Genes:

MONDO:0032912 - Coffin-Siris syndrome 11

References:

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

References:

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

References:

Genes:

MONDO:0014609 - cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

References:

Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

References:

Genes:

MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

References:

Genes:

MONDO:0016033 - Cornelia de Lange syndrome

References:

Genes:

MONDO:0007387 - Cornelia de Lange syndrome 1

References:

Genes:

MONDO:0010370 - Cornelia de Lange syndrome 2

References:

Genes:

MONDO:0012555 - Cornelia de Lange syndrome 3

References:

Genes:

MONDO:0013864 - Cornelia de Lange syndrome 4

References:

Genes:

MONDO:0957921 - Cornelia de Lange syndrome 6

References:

Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

References:

Genes:

MONDO:0007621 - Floating-Harbor syndrome

References:

Genes:

MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

References:

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

References:

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

References:

Genes:

MONDO:0030886 - holoprosencephaly 14

References:

Genes:

MONDO:0014602 - Houge-Janssens syndrome 1

References:

Genes:

MONDO:0014605 - Houge-Janssens syndrome 2

References:

Genes:

MONDO:0014632 - hypomyelinating leukodystrophy 10

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0024567 - hypotonia, infantile, with psychomotor retardation and characteristic facies 1

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

References:

Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

References:

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

References:

Genes:

MONDO:0014336 - intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

References:

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

References:

Genes:

MONDO:0009622 - Jawad syndrome

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0010465 - Kabuki syndrome 2

References:

Genes:

MONDO:0009514 - Laurence-Moon syndrome

References:

Genes:

MONDO:0014716 - macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

References:

Genes:

MONDO:0014757 - macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

References:

Genes:

MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

References:

Genes:

MONDO:0014273 - microcephaly-thin corpus callosum-intellectual disability syndrome

References:

Genes:

MONDO:0015012 - mucopolysaccharidosis-plus syndrome

References:

Genes:

MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

References:

Genes:

MONDO:0010686 - N syndrome

References:

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

References:

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

References:

Genes:

MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

References:

Genes:

MONDO:0009485 - oculocerebrofacial syndrome, Kaufman type

References:

Genes:

MONDO:0014751 - palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

References:

Genes:

MONDO:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0060568 - Pilarowski-Bjornsson syndrome

References:

Genes:

MONDO:0014886 - severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

References:

Genes:

MONDO:0014238 - severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

References:

Genes:

MONDO:0054636 - Skraban-Deardorff syndrome

References:

Genes:

MONDO:0010035 - Smith-Lemli-Opitz syndrome

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

References:

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

References:

Genes:

MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

References:

Genes:

MONDO:0014881 - transketolase deficiency

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0010485 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

References:

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

References:

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

References:

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

References:

Genes:

MONDO:0014936 - ZTTK syndrome

References:

Genes: