Cleft Lip/palate-Ectodermal Dysplasia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLF037 MIFTS: 41	Cleft Lip/palate-Ectodermal Dysplasia Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

MalaCards integrated aliases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

Name: Cleft Lip/palate-Ectodermal Dysplasia Syndrome ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰

Orofacial Cleft 7 ⁵⁷ ⁷⁵ ⁶ ⁷³

Zlotogora-Ogur Syndrome ⁵⁷ ⁷⁵ ⁷³

Clped1 ⁵⁷ ¹² ⁷⁵

Cleft Lip-Palate-Ectodermal Dysplasia Syndrome ¹² ¹⁵

Ectodermal Dysplasia, Margarita Island Type ⁵⁷ ⁷⁵

Ectodermal Dysplasia Margarita Type ⁵³ ⁷⁵

Ed4 ⁵⁷ ⁷⁵

Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly ⁵⁷

Ectodermal Dysplasia-Cleft Lip/palate-Mental Retardation-Syndactyly ⁷⁵

Non-Syndromic Cleft Lip with or Without Cleft Palate 7 ⁷⁵

Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate ¹²

Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate ⁷⁵

Cleft Lip/palate-Syndactyly-Pili Torti Syndrome ¹²

Margarita Type of Ectodermal Dysplasia ¹²

Zlotogora-Zilberman-Tenenbaum Syndrome ¹²

Margarita Island Ectodermal Dysplasia ⁷⁵

Ectodermal Dysplasia, Type 4; Ed4 ⁵⁷

Non-Syndromic Cleft Lip/palate 7 ⁷⁵

Non-Syndromic Orofacial Cleft 7 ⁷⁵

Ectodermal Dysplasia, Type 4 ⁵⁷

Ectodermal Dysplasia Type 4 ⁷⁵

Edmi ⁷⁵

Ofc7 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome

HPO:

³²

cleft lip/palate-ectodermal dysplasia syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 225060

Disease Ontology ¹² DOID:0060773

MedGen ⁴² C2931488 CN074253 C1833538 more

MeSH ⁴⁴ D004476 D002971

SNOMED-CT via HPO ⁶⁹ 258211005 204912007 48130008 more

UMLS ⁷³ C2931488 C1833538

Sources

Summaries for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia, Margarita Island type: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. Non-syndromic orofacial cleft 7: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to ectodermal dysplasia and syndactyly ectodermal dysplasia cleft lip palate hand foot. An important gene associated with Cleft Lip/palate-Ectodermal Dysplasia Syndrome is NECTIN1 (Nectin Cell Adhesion Molecule 1), and among its related pathways/superpathways are PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include bone, and related phenotypes are malar flattening and finger syndactyly

Disease Ontology : ¹² An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has material basis in homozygous mutation in the NECTIN1 gene on chromosome 11q23.

Description from OMIM: 225060

Sources

Related Diseases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Diseases related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia	30.5	NECTIN1 NECTIN4 TP63
2	syndactyly ectodermal dysplasia cleft lip palate hand foot	12.5
3	zlotogora syndrome	11.4
4	bustos simosa pinto cisternas syndrome	11.4
5	cleft lip and alveolus	10.5	NECTIN1 TP63
6	isolated cleft lip	10.4	NECTIN1 TP63
7	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	10.4	SATB2 TP63
8	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	10.3	SATB2 TP63
9	ovarian cystic teratoma	10.3	NECTIN2 PVR
10	cleft lip	10.2
11	cleft lip/palate	10.2
12	rapp-hodgkin syndrome	10.2	SATB2 TP63
13	adult syndrome	10.1	SATB2 TP63
14	herpes simplex	10.1	NECTIN1 NECTIN2 TNFRSF14
15	lacrimoauriculodentodigital syndrome	10.0	SATB2 TP63
16	chromosome 2q35 duplication syndrome	9.7	SATB2 TP63
17	split-hand/foot malformation 4	9.5	NHLH1 SATB2 TP63
18	popliteal pterygium syndrome	9.3	CDH17 NHLH1 SATB2
19	orofacial cleft	9.2	NECTIN1 NHLH1 SATB2 TP63
20	cleft palate, isolated	9.2	NECTIN1 NHLH1 SATB2 TP63

Graphical network of the top 20 diseases related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

Sources

Symptoms & Phenotypes for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Face:
triangular face
malar hypoplasia

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
hypotrichosis, progressive
short, brittle hair

Skin Nails Hair Nails:
onychodysplasia

Skeletal Feet:
syndactyly, cutaneous

Head And Neck Ears:
anteverted pinnae

Head And Neck Teeth:
microdontia
hypodontia
anodontia

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
normal sweating capacity

Skeletal Hands:
syndactyly, cutaneous

Head And Neck Nose:
abnormal philtrum

Clinical features from OMIM:

225060

Human phenotypes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

³² (show top 50) (show all 51)

#	Description	HPO Frequency	HPO Source Accession
1	malar flattening ³²		HP:0000272
2	finger syndactyly ³²	hallmark (90%)	HP:0006101
3	intellectual disability ³²	frequent (33%)	HP:0001249
4	seizures ³²	occasional (7.5%)	HP:0001250
5	neurological speech impairment ³²	frequent (33%)	HP:0002167
6	eeg abnormality ³²	occasional (7.5%)	HP:0002353
7	hyperlordosis ³²	occasional (7.5%)	HP:0003307
8	macrotia ³²	hallmark (90%)	HP:0000400
9	recurrent respiratory infections ³²	frequent (33%)	HP:0002205
10	wide nasal bridge ³²	frequent (33%)	HP:0000431
11	carious teeth ³²	frequent (33%)	HP:0000670
12	cleft palate ³²		HP:0000175
13	micrognathia ³²	frequent (33%)	HP:0000347
14	microdontia ³²		HP:0000691
15	hypohidrosis ³²	occasional (7.5%)	HP:0000966
16	wide intermamillary distance ³²	frequent (33%)	HP:0006610
17	alopecia ³²	frequent (33%)	HP:0001596
18	protruding ear ³²	frequent (33%)	HP:0000411
19	hypogonadism ³²	frequent (33%)	HP:0000135
20	downslanted palpebral fissures ³²	frequent (33%)	HP:0000494
21	bilateral single transverse palmar creases ³²	frequent (33%)	HP:0007598
22	abnormality of dental enamel ³²	occasional (7.5%)	HP:0000682
23	hypodontia ³²	occasional (7.5%)	HP:0000668
24	abnormality of dental morphology ³²	frequent (33%)	HP:0006482
25	midface retrusion ³²	frequent (33%)	HP:0011800
26	highly arched eyebrow ³²	frequent (33%)	HP:0002553
27	nail dysplasia ³²		HP:0002164
28	triangular face ³²		HP:0000325
29	cutaneous finger syndactyly ³²		HP:0010554
30	toe syndactyly ³²	hallmark (90%)	HP:0001770
31	cleft upper lip ³²		HP:0000204
32	synophrys ³²	frequent (33%)	HP:0000664
33	abnormality of the ureter ³²	occasional (7.5%)	HP:0000069
34	sparse lateral eyebrow ³²	frequent (33%)	HP:0005338
35	sparse hair ³²	frequent (33%)	HP:0008070
36	scrotal hypoplasia ³²	frequent (33%)	HP:0000046
37	dystrophic toenail ³²	frequent (33%)	HP:0001810
38	dystrophic fingernails ³²	frequent (33%)	HP:0008391
39	abnormality of the philtrum ³²		HP:0000288
40	sparse eyelashes ³²		HP:0000653
41	bilateral cleft lip and palate ³²	hallmark (90%)	HP:0002744
42	pili torti ³²	frequent (33%)	HP:0003777
43	palmoplantar hyperkeratosis ³²	occasional (7.5%)	HP:0000972
44	ectodermal dysplasia ³²	hallmark (90%)	HP:0000968
45	abnormality of hair texture ³²		HP:0010719
46	abnormality of the ear ³²		HP:0000598
47	anodontia ³²	occasional (7.5%)	HP:0000674
48	cutaneous syndactyly of toes ³²		HP:0010621
49	sparse and thin eyebrow ³²		HP:0000535
50	progressive hypotrichosis ³²		HP:0002296

Sources

Drugs & Therapeutics for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Sources

Genetic Tests for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Genetic tests related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

#	Genetic test	Affiliating Genes
1	Cleft Lip/palate-Ectodermal Dysplasia Syndrome ²⁹	NECTIN1

Sources

Anatomical Context for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

MalaCards organs/tissues related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

⁴¹

Bone

Sources

Publications for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Articles related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

#	Title	Authors	Year
1	Novel homozygous mutation, c.400C&gt;T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. ( 25913853 )	Yoshida K....Niizeki H.	2015

Sources

Genes for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Genes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	1026.88	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	10932188 3035184 11559849
2	NECTIN4	Nectin Cell Adhesion Molecule 4	Protein Coding	16.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	NECTIN2	Nectin Cell Adhesion Molecule 2	Protein Coding	16.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SATB2	SATB Homeobox 2	Protein Coding	16.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	15.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	TNFRSF14	TNF Receptor Superfamily Member 14	Protein Coding	15.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	PVR	Poliovirus Receptor	Protein Coding	14.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TP63	Tumor Protein P63	Protein Coding	14.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CADM1	Cell Adhesion Molecule 1	Protein Coding	14.25	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CADM3	Cell Adhesion Molecule 3	Protein Coding	6.51	DISEASES inferred ¹⁵
11	CADM4	Cell Adhesion Molecule 4	Protein Coding	6.2	DISEASES inferred ¹⁵
12	NHLH1	Nescient Helix-Loop-Helix 1	Protein Coding	5.97	DISEASES inferred ¹⁵
13	CDH17	Cadherin 17	Protein Coding	4.68	DISEASES inferred ¹⁵

Sources

Variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

ClinVar genetic disease variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NECTIN1	NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter)	single nucleotide variant	Pathogenic	rs104894281	GRCh37	Chromosome 11, 119548444: 119548444
2	NECTIN1	NM_203285.1(NECTIN1): c.554G> A (p.Trp185Ter)	single nucleotide variant	Pathogenic	rs104894281	GRCh38	Chromosome 11, 119677734: 119677734
3	NECTIN1	NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs)	deletion	Pathogenic	rs876657374	GRCh38	Chromosome 11, 119677732: 119677732
4	NECTIN1	NM_203285.1(NECTIN1): c.556delG (p.Glu186Lysfs)	deletion	Pathogenic	rs876657374	GRCh37	Chromosome 11, 119548442: 119548442
5	NECTIN1	NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs)	duplication	Pathogenic	rs878853255	GRCh38	Chromosome 11, 119675193: 119675193
6	NECTIN1	NM_203285.1(NECTIN1): c.969dupT (p.Thr324Tyrfs)	duplication	Pathogenic	rs878853255	GRCh37	Chromosome 11, 119545903: 119545903
7	NECTIN1	NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu)	duplication	Benign	rs753988307	GRCh38	Chromosome 11, 119664968: 119664970
8	NECTIN1	NM_002855.4(NECTIN1): c.1331_1333dupAGG (p.Glu444_Gly445insGlu)	duplication	Benign	rs753988307	GRCh37	Chromosome 11, 119535678: 119535680

Sources

Expression for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search GEO for disease gene expression data for Cleft Lip/palate-Ectodermal Dysplasia Syndrome.

Sources

Pathways for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Pathways related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.87	AFDN NECTIN1 NECTIN2 NECTIN4 TNFRSF14
2	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.52	AFDN NECTIN1 NECTIN2 NECTIN4
3	Cell junction organization ⁶⁶ Show member pathways Adherens junctions interactions ⁶⁶ Cell-Cell communication ⁶⁶ Cell-cell junction organization ⁶⁶ Cell-extracellular matrix interactions ⁶⁶ DSCAM interactions ⁶⁶ Localization of the PINCH-ILK-PARVIN complex to focal adhesions ⁶⁶ Nectin/Necl trans heterodimerization ⁶⁶ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components ⁶⁶ Signal regulatory protein (SIRP) family interactions ⁶⁶ Tight junction interactions ⁶⁶ Type I hemidesmosome assembly ⁶⁶	11.85	AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN2
4	Adhesion ⁴	11.71	AFDN CDH17 NECTIN4 PVR
5	Cell adhesion molecules (CAMs) ³⁷	11.51	CADM1 CADM3 NECTIN1 NECTIN2 PVR
6	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁵	11.31	NECTIN2 PVR TNFRSF14
7	Adherens junction ³⁷	11.31	AFDN NECTIN1 NECTIN2 NECTIN4
8	Nectin adhesion pathway ¹	10.83	NECTIN1 NECTIN2 PVR

Sources

GO Terms for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Cellular components related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.8	AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN4
2	integral component of plasma membrane	GO:0005887	9.76	CADM1 CADM3 CADM4 NECTIN1 NECTIN2 NECTIN4
3	cell-cell junction	GO:0005911	9.56	AFDN CADM1 CADM3 NECTIN2
4	adherens junction	GO:0005912	9.54	AFDN NECTIN1 NECTIN4
5	cell-cell contact zone	GO:0044291	9.4	NECTIN1 NECTIN2
6	cell-cell adherens junction	GO:0005913	9.23	AFDN CADM1 CADM3 CADM4 NECTIN1 NECTIN2
7	apical junction complex	GO:0043296	9.13	AFDN NECTIN1 NECTIN2
8	plasma membrane	GO:0005886	10.09	AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN2

Biological processes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.97	AFDN CADM1 CADM3 CADM4 CDH17 NECTIN1
2	multicellular organism development	GO:0007275	9.92	CADM1 NHLH1 SATB2 TNFRSF14 TP63
3	viral process	GO:0016032	9.89	NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
4	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.86	CADM1 CADM3 CADM4 CDH17 NECTIN1 NECTIN2
5	viral entry into host cell	GO:0046718	9.77	NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
6	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	GO:0007157	9.7	CADM1 CADM3 CADM4 NECTIN1 NECTIN2 NECTIN4
7	positive regulation of natural killer cell mediated cytotoxicity	GO:0045954	9.63	CADM1 NECTIN2 PVR
8	positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	GO:0002860	9.61	CADM3 NECTIN2 PVR
9	susceptibility to natural killer cell mediated cytotoxicity	GO:0042271	9.58	CADM1 NECTIN2 PVR
10	adherens junction organization	GO:0034332	9.56	AFDN CADM1 CADM3 CDH17 NECTIN1 NECTIN2
11	protein localization to cell junction	GO:1902414	9.51	AFDN NECTIN1
12	susceptibility to T cell mediated cytotoxicity	GO:0060370	9.48	NECTIN2 PVR
13	cell recognition	GO:0008037	9.17	CADM1 CADM3 CADM4 NECTIN1 NECTIN2 NECTIN4

Molecular functions related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:0042803	9.8	CADM1 CADM3 CADM4 NECTIN1 NECTIN2 NECTIN4
2	signaling receptor binding	GO:0005102	9.7	CADM1 CADM3 CADM4 NECTIN1 NECTIN2 NECTIN4
3	virus receptor activity	GO:0001618	9.35	NECTIN1 NECTIN2 NECTIN4 PVR TNFRSF14
4	coreceptor activity	GO:0015026	9.32	NECTIN1 NECTIN2
5	cell adhesion molecule binding	GO:0050839	9.23	AFDN CADM1 CADM3 CADM4 NECTIN1 NECTIN2

Sources

Sources for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia