Autosomal Recessive Intellectual Developmental Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Recessive Intellectual Developmental Disorder

MalaCards integrated aliases for Autosomal Recessive Intellectual Developmental Disorder:

Name: Autosomal Recessive Intellectual Developmental Disorder ¹¹

Mental Retardation, Autosomal Recessive ⁵ ³⁸

Autosomal Recessive Non-Syndromic Intellectual Disability ¹⁴

Autosomal Recessive Non-Syndromic Mental Retardation ¹¹

Autosomal Recessive Mental Retardation ¹¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Gastrointestinal diseases Ear diseases Oral diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060308

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Summaries for Autosomal Recessive Intellectual Developmental Disorder

Disease Ontology: ¹¹ A intellectual disability characterized by an autosomal recessive inheritance pattern.

MalaCards based summary: Autosomal Recessive Intellectual Developmental Disorder, also known as mental retardation, autosomal recessive, is related to autosomal recessive non-syndromic intellectual disability and intellectual developmental disorder, autosomal recessive 61. An important gene associated with Autosomal Recessive Intellectual Developmental Disorder is TRAPPC9 (Trafficking Protein Particle Complex Subunit 9). Affiliated tissues include brain.

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Related Diseases for Autosomal Recessive Intellectual Developmental Disorder

Diseases in the Autosomal Dominant Intellectual Developmental Disorder family:

Diseases related to Autosomal Recessive Intellectual Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive non-syndromic intellectual disability	32.7	TRAPPC9 LHFPL5 EEF1D CC2D1A
2	intellectual developmental disorder, autosomal recessive 61	11.6
3	intellectual developmental disorder, autosomal recessive 72	11.6
4	intellectual developmental disorder, autosomal recessive 14	11.6
5	intellectual developmental disorder, autosomal recessive 43	11.6
6	intellectual developmental disorder, autosomal recessive 66	11.6
7	intellectual developmental disorder, autosomal recessive 73	11.6
8	intellectual developmental disorder, autosomal recessive 77	11.6
9	intellectual developmental disorder, autosomal recessive 5	11.5
10	intellectual developmental disorder, autosomal recessive 1	11.5
11	intellectual developmental disorder, autosomal recessive 2	11.5
12	intellectual developmental disorder, autosomal recessive 3	11.5
13	intellectual developmental disorder, autosomal recessive 12	11.5
14	intellectual developmental disorder, autosomal recessive 6	11.5
15	intellectual developmental disorder, autosomal recessive 7	11.5
16	intellectual developmental disorder, autosomal recessive 9	11.5
17	intellectual developmental disorder, autosomal recessive 10	11.5
18	intellectual developmental disorder, autosomal recessive 11	11.5
19	intellectual developmental disorder, autosomal recessive 4	11.5
20	intellectual developmental disorder, autosomal recessive 13	11.5
21	intellectual developmental disorder, autosomal recessive 16	11.5
22	intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	11.5
23	intellectual developmental disorder, autosomal recessive 31	11.5
24	intellectual developmental disorder, autosomal recessive 29	11.5
25	intellectual developmental disorder, autosomal recessive 27	11.5
26	intellectual developmental disorder, autosomal recessive 33	11.5
27	intellectual developmental disorder, autosomal recessive 30	11.5
28	intellectual developmental disorder, autosomal recessive 23	11.5
29	intellectual developmental disorder, autosomal recessive 24	11.5
30	intellectual developmental disorder, autosomal recessive 25	11.5
31	intellectual developmental disorder, autosomal recessive 28	11.5
32	intellectual developmental disorder, autosomal recessive 35	11.5
33	intellectual developmental disorder, autosomal recessive 37	11.5
34	intellectual developmental disorder, autosomal recessive 38	11.5
35	intellectual developmental disorder, autosomal recessive 39	11.5
36	neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity	11.5
37	intellectual developmental disorder, autosomal recessive 41	11.5
38	intellectual developmental disorder, autosomal recessive 44	11.5
39	intellectual developmental disorder, autosomal recessive 45	11.5
40	intellectual developmental disorder, autosomal recessive 46	11.5
41	intellectual developmental disorder, autosomal recessive 47	11.5
42	intellectual developmental disorder, autosomal recessive 48	11.5
43	intellectual developmental disorder, autosomal recessive 50	11.5
44	intellectual developmental disorder, autosomal recessive 51	11.5
45	intellectual developmental disorder, autosomal recessive 52	11.5
46	intellectual developmental disorder, autosomal recessive 54	11.5
47	intellectual developmental disorder, autosomal recessive 56	11.5
48	intellectual developmental disorder, autosomal recessive 74	11.5
49	intellectual developmental disorder, autosomal recessive 57	11.5
50	intellectual developmental disorder, autosomal recessive 58	11.5

Graphical network of the top 20 diseases related to Autosomal Recessive Intellectual Developmental Disorder:

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Symptoms & Phenotypes for Autosomal Recessive Intellectual Developmental Disorder

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Drugs & Therapeutics for Autosomal Recessive Intellectual Developmental Disorder

Search Clinical Trials, NIH Clinical Center for Autosomal Recessive Intellectual Developmental Disorder

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Genetic Tests for Autosomal Recessive Intellectual Developmental Disorder

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Anatomical Context for Autosomal Recessive Intellectual Developmental Disorder

Organs/tissues related to Autosomal Recessive Intellectual Developmental Disorder:

MalaCards : Brain

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Publications for Autosomal Recessive Intellectual Developmental Disorder

Articles related to Autosomal Recessive Intellectual Developmental Disorder:

(show top 50) (show all 57)

#	Title	Authors	PMID	Year
1	Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability. ⁵	Ugur Iseri SA...Ozbek U	30787422	2019
2	CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. ⁵	Manzini MC...Walsh CA	25066123	2014
3	A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. ⁶²	Amin M...Dorboz I	36348459	2022
4	Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3. ⁶²	Hu X...Sun L	35405382	2022
5	A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. ⁶²	Hasan M...Paudel S	36420349	2022
6	A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome. ⁶²	Gorukmez O...Ekici A	32162566	2021
7	Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. ⁶²	Lesieur-Sebellin M...Keren B	34474177	2021
8	Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR. ⁶²	Rehman SU...Arif M	34580524	2021
9	Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene. ⁶²	Verhoeven WMA...van Haeringen A	33310825	2020
10	A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature. ⁶²	Turkyilmaz A...Sager G	33510603	2020
11	Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report. ⁶²	Picher-Martel V...Chrestian N	32061250	2020
12	[Identification of LINS1 gene variant in a patient with severe mental retardation]. ⁶²	Zhang X...Shen G	31922598	2020
13	A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. ⁶²	Muthusamy B...Pandey A	32499722	2020
14	Tumor suppressor candidate 3: A novel grading tool and predictor of clinical malignancy in human gliomas. ⁶²	Yuan J...Du J	29556302	2018
15	Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. ⁶²	Abbasi AA...Kaindl AM	29031008	2017
16	TUSC3: a novel tumour suppressor gene and its functional implications. ⁶²	Yu X...Du J	28272772	2017
17	A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. ⁶²	Sheereen A...Eyaid W	28143899	2017
18	Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth. ⁶²	Wakabayashi S...Hoch M	27702999	2016
19	Neto2 Influences on Kainate Receptor Pharmacology and Function. ⁶²	Han L...Pickering DS	26928870	2016
20	Cereblon in health and disease. ⁶²	Kim HK...Han J	27343012	2016
21	[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome]. ⁶²	Koczok K...Balogh I	26551309	2015
22	Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation. ⁶²	Khattak NA...Mir A	24040793	2014
23	Genetics of non-syndromic autosomal recessive mental retardation. ⁶²	Afroze B...Chaudhry B	23865144	2013
24	Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. ⁶²	Rajadhyaksha AM...Higgins JJ	21995942	2012
25	A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. ⁶²	Garshasbi M...Kuss AW	21739581	2011
26	Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ⁶²	Rehman Su...Hansen L	21643797	2011
27	Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes. ⁶²	Mhamdi O...Chaabouni Bouhamed H	21557188	2011
28	[Linkage analysis of six Algerian families with autosomal recessive non specific mental retardation]. ⁶²	Guessibia N...Chaabouni Bouhamed H	21557185	2011
29	Homozygosity mapping in outbred families with mental retardation. ⁶²	Schuurs-Hoeijmakers JH...de Vries BB	21248743	2011
30	Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. ⁶²	Caliskan M...Ober C	21212097	2011
31	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ⁶²	Kuss AW...Najmabadi H	21063731	2011
32	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. ⁶²	Morava E...Wevers RA	20943778	2011
33	Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. ⁶²	Kahrizi K...Tzschach A	20700148	2011
34	What is the functional role of the thalidomide binding protein cereblon? ⁶²	Chang XB...Stewart AK	22003441	2011
35	SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. ⁶²	Birk E...Basel-Vanagaite L	21035105	2010
36	Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. ⁶²	Rafiq MA...Scherer SW	20345473	2010
37	Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. ⁶²	Kousar R...Ansar M	19808985	2010
38	Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. ⁶²	Philippe O...Colleaux L	20004764	2009
39	Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. ⁶²	Mir A...Vincent JB	20004765	2009
40	Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ⁶²	Noor A...Ayub M	19068953	2008
41	A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. ⁶²	Garshasbi M...Kuss AW	18452889	2008
42	CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ⁶²	Noor A...Ayub M	18387594	2008
43	A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ⁶²	Motazacker MM...Kuss AW	17847003	2007
44	Genetics of autosomal recessive non-syndromic mental retardation: recent advances. ⁶²	Basel-Vanagaite L	17718851	2007
45	Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. ⁶²	Basel-Vanagaite L...Straussberg R	17618476	2007
46	Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. ⁶²	Najmabadi H...Ropers HH	17120046	2007
47	A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. ⁶²	Uyguner O...Wollnik B	17309643	2007
48	Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. ⁶²	Didelot G...Preat T	16902143	2006
49	The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. ⁶²	Basel-Vanagaite L...Shohat M	16033914	2006
50	SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. ⁶²	Garshasbi M...Najmabadi H	16311745	2006

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Genes for Autosomal Recessive Intellectual Developmental Disorder

Genes related to Autosomal Recessive Intellectual Developmental Disorder (19 elite genes):

(show top 50) (show all 101)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	407.88	Pathogenic ⁵ DISEASES inferred ¹⁴
2	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	407.63	Pathogenic ⁵ DISEASES inferred ¹⁴	25066123
3	EEF1D	Eukaryotic Translation Elongation Factor 1 Delta	Protein Coding	400	Pathogenic ⁵	30787422
4	LHFPL5	LHFPL Tetraspan Subfamily Member 5	Protein Coding	400	Pathogenic ⁵
5	MRT10	Mental Retardation, Non-Syndromic, Autosomal Recessive, 10	Genetic Locus	50	MalaCards inferred ³⁹
6	MRT11	Mental Retardation, Non-Syndromic, Autosomal Recessive, 11	Genetic Locus	50	MalaCards inferred ³⁹
7	MRT16	Mental Retardation, Autosomal Recessive 16	Genetic Locus	50	MalaCards inferred ³⁹
8	MRT19	Mental Retardation, Non-Syndromic, Autosomal Recessive, 19	Genetic Locus	50	MalaCards inferred ³⁹
9	MRT23	Mental Retardation, Non-Syndromic, Autosomal Recessive, 23	Genetic Locus	50	MalaCards inferred ³⁹
10	MRT24	Mental Retardation, Non-Syndromic, Autosomal Recessive, 24	Genetic Locus	50	MalaCards inferred ³⁹
11	MRT25	Mental Retardation, Non-Syndromic, Autosomal Recessive, 25	Genetic Locus	50	MalaCards inferred ³⁹
12	MRT28	Mental Retardation, Non-Syndromic, Autosomal Recessive, 28	Genetic Locus	50	MalaCards inferred ³⁹
13	MRT29	Mental Retardation, Autosomal Recessive 29	Genetic Locus	50	MalaCards inferred ³⁹
14	MRT30	Mental Retardation, Autosomal Recessive 30	Genetic Locus	50	MalaCards inferred ³⁹
15	MRT31	Mental Retardation, Autosomal Recessive 31	Genetic Locus	50	MalaCards inferred ³⁹
16	MRT33	Mental Retardation, Autosomal Recessive 33	Genetic Locus	50	MalaCards inferred ³⁹
17	MRT35	Mental Retardation, Autosomal Recessive 35	Genetic Locus	50	MalaCards inferred ³⁹
18	MRT4	Mental Retardation, Non-Syndromic, Autosomal Recessive, 4	Genetic Locus	50	MalaCards inferred ³⁹
19	MRT9	Mental Retardation, Non-Syndromic, Autosomal Recessive, 9	Genetic Locus	50	MalaCards inferred ³⁹
20	METTL5	Methyltransferase 5, N6-Adenosine	Protein Coding	12.91	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
21	PRSS12	Serine Protease 12	Protein Coding	7.7	DISEASES inferred ¹⁴
22	CRBN	Cereblon	Protein Coding	7.5	DISEASES inferred ¹⁴
23	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	7.5	DISEASES inferred ¹⁴
24	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	6.85	DISEASES inferred ¹⁴
25	STT3B	STT3 Oligosaccharyltransferase Complex Catalytic Subunit B	Protein Coding	6.41	DISEASES inferred ¹⁴
26	GRIK5	Glutamate Ionotropic Receptor Kainate Type Subunit 5	Protein Coding	6.4	DISEASES inferred ¹⁴
27	C8orf17	Chromosome 8 Putative Open Reading Frame 17	RNA Gene	6.05	DISEASES inferred ¹⁴
28	IKZF3	IKAROS Family Zinc Finger 3	Protein Coding	6	DISEASES inferred ¹⁴
29	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	5.92	DISEASES inferred ¹⁴
30	STT3A	STT3 Oligosaccharyltransferase Complex Catalytic Subunit A	Protein Coding	5.89	DISEASES inferred ¹⁴
31	IKZF1	IKAROS Family Zinc Finger 1	Protein Coding	5.68	DISEASES inferred ¹⁴
32	ZC3H14	Zinc Finger CCCH-Type Containing 14	Protein Coding	5.57	DISEASES inferred ¹⁴
33	TRAPPC1	Trafficking Protein Particle Complex Subunit 1	Protein Coding	5.4	DISEASES inferred ¹⁴
34	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	5.36	DISEASES inferred ¹⁴
35	CUL4A	Cullin 4A	Protein Coding	5.34	DISEASES inferred ¹⁴
36	ZNF674	Zinc Finger Protein 674	Protein Coding	5.31	DISEASES inferred ¹⁴
37	ZNF81	Zinc Finger Protein 81	Protein Coding	5.3	DISEASES inferred ¹⁴
38	MCPH1	Microcephalin 1	Protein Coding	5.26	DISEASES inferred ¹⁴
39	NSUN7	NOP2/Sun RNA Methyltransferase Family Member 7	Protein Coding	5.25	DISEASES inferred ¹⁴
40	RBX1	Ring-Box 1	Protein Coding	5.2	DISEASES inferred ¹⁴
41	MED23	Mediator Complex Subunit 23	Protein Coding	5.19	DISEASES inferred ¹⁴
42	RPN1	Ribophorin I	Protein Coding	5.17	DISEASES inferred ¹⁴
43	LINS1	Lines Homolog 1	Protein Coding	5.17	DISEASES inferred ¹⁴
44	KRTCAP2	Keratinocyte Associated Protein 2	Protein Coding	5.16	DISEASES inferred ¹⁴
45	NSUN3	NOP2/Sun RNA Methyltransferase 3	Protein Coding	5.15	DISEASES inferred ¹⁴
46	C1orf94	Chromosome 1 Open Reading Frame 94	Protein Coding	5.14	DISEASES inferred ¹⁴
47	KCNK9	Potassium Two Pore Domain Channel Subfamily K Member 9	Protein Coding	5.14	DISEASES inferred ¹⁴
48	MLEC	Malectin	Protein Coding	5.09	DISEASES inferred ¹⁴
49	OST4	Oligosaccharyltransferase Complex Subunit 4, Non-Catalytic	Protein Coding	5.08	DISEASES inferred ¹⁴
50	MAGT1	Magnesium Transporter 1	Protein Coding	5.07	DISEASES inferred ¹⁴

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Variations for Autosomal Recessive Intellectual Developmental Disorder

ClinVar genetic disease variations for Autosomal Recessive Intellectual Developmental Disorder:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LHFPL5	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	SNV	Pathogenic	375705	rs1554147220	GRCh37: 6:35782485-35782485 GRCh38: 6:35814708-35814708
2	EEF1D	NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter)	SNV	Pathogenic	599374	rs1563978827	GRCh37: 8:144671304-144671304 GRCh38: 8:143589134-143589134
3	TRAPPC9	NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs)	DUP	Pathogenic	1683498		GRCh37: 8:141294107-141294108 GRCh38: 8:140284008-140284009
4	CC2D1A	NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)	SNV	Pathogenic	1699097		GRCh37: 19:14038736-14038736 GRCh38: 19:13927923-13927923
5	ZFTRAF1, LOC84773-CYHR1, TMEM276	NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser)	SNV	Uncertain Significance	599376	rs752345868	GRCh37: 8:145689830-145689830 GRCh38: 8:144464447-144464447
6	MROH6	NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)	SNV	Uncertain Significance	599375	rs1173787317	GRCh37: 8:144649810-144649810 GRCh38: 8:143567640-143567640

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Expression for Autosomal Recessive Intellectual Developmental Disorder

Search GEO for disease gene expression data for Autosomal Recessive Intellectual Developmental Disorder.

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Pathways for Autosomal Recessive Intellectual Developmental Disorder

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GO Terms for Autosomal Recessive Intellectual Developmental Disorder

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Sources for Autosomal Recessive Intellectual Developmental Disorder

¹ BitterDB

² CDC

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⁸ Cosmic

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS523 MIFTS: 26	Autosomal Recessive Intellectual Developmental Disorder Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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