OFC8
MCID: ORF016
MIFTS: 41

Orofacial Cleft 8 (OFC8)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 8

MalaCards integrated aliases for Orofacial Cleft 8:

Name: Orofacial Cleft 8 57 12 73 29 6 15
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 8 57 73
Ofc8 57 73
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 73
Non-Syndromic Cleft Lip/palate 8 73
Orofacial Cleft, Type 8 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0080401
OMIM® 57 618149
OMIM Phenotypic Series 57 PS119530
MeSH 44 D002971

Summaries for Orofacial Cleft 8

UniProtKB/Swiss-Prot : 73 Orofacial cleft 8: 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 : Orofacial Cleft 8, also known as cleft lip with or without cleft palate, nonsyndromic, 8, is related to rapp-hodgkin syndrome and split-hand/foot malformation 1. An important gene associated with Orofacial Cleft 8 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Direct p53 effectors and Neural Crest Differentiation. Affiliated tissues include skin, and related phenotypes are craniofacial and digestive/alimentary

Disease Ontology : 12 An orofacial cleft that has material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.

OMIM® : 57 Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip (Leoyklang et al., 2006; Basha et al., 2018). (618149) (Updated 05-Mar-2021)

Related Diseases for Orofacial Cleft 8

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 rapp-hodgkin syndrome 32.2 TP63 DLX6 DLX5
2 split-hand/foot malformation 1 10.3 TP63 DLX5
3 cleft lip and alveolus 10.3 TP63 IRF6
4 bartsocas-papas syndrome 10.3 TP63 IRF6
5 isolated cleft lip 10.3 TP63 IRF6
6 syngnathia 10.3 IRF6 DLX6
7 ulcerative stomatitis 10.2 TP73 TP63
8 cleft lip/palate 10.2 TP63 LOC111162620 IRF6
9 split-hand/foot malformation 5 10.2 TP63 DLX6 DLX5
10 split-hand/foot malformation 2 10.2 TP63 DLX6 DLX5
11 split-hand/foot malformation 6 10.2 TP63 DLX6 DLX5
12 split-hand/foot malformation 4 10.2 TP63 DLX6 DLX5
13 split-hand/foot malformation 3 10.2 TP63 DLX6 DLX5
14 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.2 TP63 DLX6 DLX5
15 ankyloblepharon-ectodermal defects-cleft lip/palate 10.2 TP63 IRF6 EDAR
16 isolated split hand-split foot malformation 10.2 TP63 DLX6 DLX5
17 stomach carcinoma in situ 10.2 LORICRIN FLG
18 split hand-foot malformation 10.2 TP63 DLX6 DLX5
19 erythrokeratoderma 10.2 LORICRIN FLG
20 irritant dermatitis 10.1 LORICRIN FLG
21 epstein-barr virus-associated gastric carcinoma 10.1 TP73 FLG
22 hyaline fibromatosis syndrome 10.1 LORICRIN EDAR CDH3
23 dermatitis, atopic, 2 10.1 LORICRIN FLG
24 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 TP63 LOC111162620 DLX6 DLX5
25 hair disease 10.1 LORICRIN EDAR CDH3
26 orofacial cleft 4 10.1 TP63 NOTCH1 DLX6
27 malignant leptomeningeal tumor 10.1 TYR MLANA
28 meningeal melanoma 10.1 TYR MLANA
29 ciliary body cancer 10.1 TYR MLANA
30 melanoacanthoma 10.1 TYR MLANA
31 halo nevi 10.0 TYR MLANA
32 sarcomatoid transitional cell carcinoma 10.0 TYR MLANA
33 spinal cord melanoma 10.0 TYR MLANA
34 melanomatosis 10.0 TYR MLANA
35 diffuse meningeal melanocytosis 10.0 TYR MLANA
36 epithelioid cell melanoma 10.0 TYR MLANA
37 actinic keratosis 10.0 TYR TP63 FLG
38 orbit rhabdomyosarcoma 10.0 TYR MLANA
39 malignant spindle cell melanoma 10.0 TYR MLANA
40 waardenburg syndrome, type 3 10.0 TYR BMP7
41 mucoepidermoid carcinoma 10.0 TP63 NOTCH1 CDH3
42 nodular malignant melanoma 10.0 TYR MLANA
43 skin benign neoplasm 9.9 TYR TP63 MLANA
44 integumentary system disease 9.9 TYR LORICRIN FLG
45 tooth agenesis 9.9 TP63 IRF6 EDAR DLX5 CDH3
46 chromosome 2q35 duplication syndrome 9.8 TP63 IRF6 DLX6 DLX5 BMP7
47 nodular regenerative hyperplasia 9.8 NOTCH1 JAG1
48 spondylocostal dysostosis 3, autosomal recessive 9.7 NOTCH1 JAG1
49 orofacial cleft 9.7 TP63 LOC111162620 IRF6 DLX6 DLX5 BMP7
50 hajdu-cheney syndrome 9.7 NOTCH1 JAG1

Graphical network of the top 20 diseases related to Orofacial Cleft 8:



Diseases related to Orofacial Cleft 8

Symptoms & Phenotypes for Orofacial Cleft 8

Clinical features from OMIM®:

618149 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Orofacial Cleft 8:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.28 BMP7 DLX5 DLX6 EDAR IRF6 JAG1
2 digestive/alimentary MP:0005381 10.22 BMP7 DLX5 DLX6 EDAR IRF6 JAG1
3 growth/size/body region MP:0005378 10.22 BMP7 DLX5 DLX6 EDAR IRF6 JAG1
4 embryo MP:0005380 10.21 BMP7 DLX5 DLX6 IRF6 JAG1 NOTCH1
5 integument MP:0010771 10.21 BMP7 CDH3 DLX5 DLX6 EDAR IRF6
6 cardiovascular system MP:0005385 10.2 BMP7 DLX5 EDAR JAG1 NOTCH1 SMARCA4
7 endocrine/exocrine gland MP:0005379 10.15 BMP7 CDH3 EDAR JAG1 NOTCH1 SMARCA4
8 mortality/aging MP:0010768 10.11 BMP7 DLX5 DLX6 EDAR IRF6 JAG1
9 hearing/vestibular/ear MP:0005377 10.06 BMP7 DLX5 DLX6 IRF6 JAG1 NOTCH1
10 limbs/digits/tail MP:0005371 10.01 BMP7 DLX5 DLX6 EDAR IRF6 SMARCA4
11 normal MP:0002873 9.87 BMP7 DLX5 JAG1 NOTCH1 SMARCA4 TP63
12 pigmentation MP:0001186 9.73 BMP7 EDAR MLANA NOTCH1 SMARCA4 TYR
13 respiratory system MP:0005388 9.7 BMP7 DLX5 DLX6 NOTCH1 SMARCA4 TP63
14 skeleton MP:0005390 9.7 BMP7 DLX5 DLX6 EDAR IRF6 JAG1
15 vision/eye MP:0005391 9.23 BMP7 EDAR JAG1 NOTCH1 SMARCA4 TP63

Drugs & Therapeutics for Orofacial Cleft 8

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 8

Genetic Tests for Orofacial Cleft 8

Genetic tests related to Orofacial Cleft 8:

# Genetic test Affiliating Genes
1 Orofacial Cleft 8 29 TP63

Anatomical Context for Orofacial Cleft 8

MalaCards organs/tissues related to Orofacial Cleft 8:

40
Skin

Publications for Orofacial Cleft 8

Articles related to Orofacial Cleft 8:

(show all 12)
# Title Authors PMID Year
1
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. 57 6
29500247 2018
2
A mutation of the p63 gene in non-syndromic cleft lip. 57 6
16740912 2006
3
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. 6
29956718 2019
4
An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. 6
19239083 2008
5
A new mutation in TP63 is associated with age-related pathology. 6
17609671 2007
6
Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. 6
15983386 2005
7
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 6
15200513 2004
8
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 6
12939657 2003
9
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 6
12766194 2003
10
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 6
10839977 2000
11
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 6
10886756 2000
12
TP63-Related Disorders 61
20556892 2010

Variations for Orofacial Cleft 8

ClinVar genetic disease variations for Orofacial Cleft 8:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His) SNV Pathogenic 6533 rs121908840 3:189585692-189585692 3:189867903-189867903
2 TP63 TP63, 1-BP DEL, 1709A Deletion Pathogenic 6542
3 TP63 TP63, 1-BP DEL, 1859A Deletion Pathogenic 6543
4 TP63 NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) SNV Pathogenic 6544 rs121908845 3:189607267-189607267 3:189889478-189889478
5 TP63 NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) SNV Pathogenic 6545 rs121908846 3:189608663-189608663 3:189890874-189890874
6 TP63 NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) SNV Pathogenic 6547 rs121908847 3:189586430-189586430 3:189868641-189868641
7 TP63 TP63, 1-BP DEL, 1783C Deletion Pathogenic 6551
8 TP63 TP63, 11-BP DUP, NT1716 Duplication Pathogenic 6553
9 TP63 NM_003722.5(TP63):c.819_820dup (p.Gln274fs) Duplication Pathogenic 585267 rs1560277554 3:189584521-189584522 3:189866732-189866733
10 TP63 NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) SNV Pathogenic 807713 rs1577213466 3:189612038-189612038 3:189894249-189894249
11 TP63 NM_003722.5(TP63):c.63-1G>C SNV Uncertain significance 632415 rs200607940 3:189455528-189455528 3:189737739-189737739
12 TP63 NM_003722.5(TP63):c.*1472A>G SNV Uncertain significance 344413 rs375551286 3:189613763-189613763 3:189895974-189895974
13 TP63 NM_003722.5(TP63):c.*966C>T SNV Uncertain significance 344406 rs539983621 3:189613257-189613257 3:189895468-189895468
14 TP63 NM_003722.5(TP63):c.*1164A>G SNV Uncertain significance 344408 rs886058230 3:189613455-189613455 3:189895666-189895666
15 TP63 NM_003722.5(TP63):c.*2357C>A SNV Uncertain significance 899439 3:189614648-189614648 3:189896859-189896859
16 TP63 NM_003722.5(TP63):c.84T>G (p.His28Gln) SNV Uncertain significance 725955 rs370716448 3:189455550-189455550 3:189737761-189737761
17 TP63 NM_003722.5(TP63):c.210G>C (p.Gln70His) SNV Uncertain significance 899830 3:189456449-189456449 3:189738660-189738660
18 TP63 NM_003722.5(TP63):c.*736T>G SNV Uncertain significance 900279 3:189613027-189613027 3:189895238-189895238
19 TP63 NM_003722.5(TP63):c.*1169T>C SNV Uncertain significance 900343 3:189613460-189613460 3:189895671-189895671
20 TP63 NM_003722.5(TP63):c.*1437C>G SNV Uncertain significance 900398 3:189613728-189613728 3:189895939-189895939
21 TP63 NM_003722.5(TP63):c.*2162C>A SNV Uncertain significance 900520 3:189614453-189614453 3:189896664-189896664
22 LOC111162620 NM_003722.5(TP63):c.-87C>T SNV Uncertain significance 900929 3:189349218-189349218 3:189631429-189631429
23 TP63 NM_003722.5(TP63):c.387G>A (p.Ser129=) SNV Uncertain significance 901000 3:189526123-189526123 3:189808334-189808334
24 TP63 NM_003722.5(TP63):c.*2205A>G SNV Uncertain significance 344427 rs886058238 3:189614496-189614496 3:189896707-189896707
25 TP63 NM_003722.5(TP63):c.1644C>T (p.Ser548=) SNV Uncertain significance 344388 rs763019843 3:189607265-189607265 3:189889476-189889476
26 TP63 NM_003722.5(TP63):c.*232T>C SNV Uncertain significance 344395 rs569527175 3:189612523-189612523 3:189894734-189894734
27 LOC111162620 NM_003722.5(TP63):c.-65C>T SNV Uncertain significance 344378 rs886058220 3:189349240-189349240 3:189631451-189631451
28 TP63 NM_003722.5(TP63):c.*1702G>A SNV Uncertain significance 344415 rs886058232 3:189613993-189613993 3:189896204-189896204
29 TP63 NM_003722.5(TP63):c.766+5G>A SNV Uncertain significance 344384 rs374425727 3:189582212-189582212 3:189864423-189864423
30 TP63 NM_003722.5(TP63):c.*2155G>A SNV Uncertain significance 344425 rs573673077 3:189614446-189614446 3:189896657-189896657
31 TP63 NM_003722.5(TP63):c.*382A>G SNV Uncertain significance 344398 rs886058227 3:189612673-189612673 3:189894884-189894884
32 TP63 NM_003722.5(TP63):c.*1217T>C SNV Uncertain significance 344410 rs886058231 3:189613508-189613508 3:189895719-189895719
33 TP63 NM_003722.5(TP63):c.*1846C>T SNV Uncertain significance 344417 rs886058234 3:189614137-189614137 3:189896348-189896348
34 TP63 NM_003722.5(TP63):c.*1959A>T SNV Uncertain significance 344420 rs527726173 3:189614250-189614250 3:189896461-189896461
35 TP63 NM_003722.5(TP63):c.*2273A>G SNV Uncertain significance 344429 rs886058239 3:189614564-189614564 3:189896775-189896775
36 TP63 NM_003722.5(TP63):c.1994T>G (p.Met665Arg) SNV Uncertain significance 344391 rs886058223 3:189612242-189612242 3:189894453-189894453
37 TP63 NM_003722.5(TP63):c.*101C>T SNV Uncertain significance 344392 rs574438859 3:189612392-189612392 3:189894603-189894603
38 TP63 NM_003722.5(TP63):c.303G>A (p.Ser101=) SNV Uncertain significance 344380 rs186864205 3:189456542-189456542 3:189738753-189738753
39 TP63 NM_003722.5(TP63):c.409G>C (p.Asp137His) SNV Uncertain significance 344381 rs762935508 3:189526145-189526145 3:189808356-189808356
40 TP63 NM_003722.5(TP63):c.*2197C>A SNV Uncertain significance 344426 rs886058237 3:189614488-189614488 3:189896699-189896699
41 TP63 NM_003722.5(TP63):c.1374A>G (p.Ser458=) SNV Uncertain significance 344387 rs141794685 3:189604207-189604207 3:189886418-189886418
42 TP63 NM_003722.5(TP63):c.*2009T>C SNV Uncertain significance 344422 rs886058236 3:189614300-189614300 3:189896511-189896511
43 TP63 NM_003722.5(TP63):c.*1181T>C SNV Uncertain significance 344409 rs565556454 3:189613472-189613472 3:189895683-189895683
44 TP63 NM_003722.5(TP63):c.*803G>A SNV Uncertain significance 344404 rs544230654 3:189613094-189613094 3:189895305-189895305
45 TP63 NM_003722.5(TP63):c.*295T>A SNV Uncertain significance 344396 rs886058226 3:189612586-189612586 3:189894797-189894797
46 TP63 NM_003722.5(TP63):c.*2426C>T SNV Uncertain significance 344432 rs568346565 3:189614717-189614717 3:189896928-189896928
47 TP63 NM_003722.5(TP63):c.*221G>A SNV Uncertain significance 344393 rs886058224 3:189612512-189612512 3:189894723-189894723
48 TP63 NM_003722.5(TP63):c.699A>G (p.Lys233=) SNV Uncertain significance 344382 rs199727371 3:189582140-189582140 3:189864351-189864351
49 TP63 NM_003722.5(TP63):c.*1939T>G SNV Uncertain significance 344419 rs567626735 3:189614230-189614230 3:189896441-189896441
50 TP63 NM_003722.5(TP63):c.899C>A (p.Thr300Lys) SNV Uncertain significance 344385 rs886058222 3:189585638-189585638 3:189867849-189867849

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 8:

73
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg352Gly VAR_035127 rs121908847

Expression for Orofacial Cleft 8

Search GEO for disease gene expression data for Orofacial Cleft 8.

Pathways for Orofacial Cleft 8

GO Terms for Orofacial Cleft 8

Cellular components related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.1 TP73 TP63 SMARCA4 IRF6 DLX6 DLX5

Biological processes related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.17 TP73 TP63 SMARCA4 NOTCH1 IRF6 DLX6
2 regulation of transcription, DNA-templated GO:0006355 10.15 TP73 TP63 SMARCA4 NOTCH1 IRF6 DLX6
3 multicellular organism development GO:0007275 10.06 TP63 NOTCH1 JAG1 FLG EDAR DLX6
4 cell differentiation GO:0030154 10.04 TP63 NOTCH1 IRF6 EDAR DLX6 DLX5
5 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 TP73 TP63 SMARCA4 NOTCH1 JAG1 IRF6
6 positive regulation of gene expression GO:0010628 9.97 NOTCH1 EDAR DLX5 CDH3 BMP7
7 positive regulation of transcription, DNA-templated GO:0045893 9.95 TP73 TP63 SMARCA4 NOTCH1 IRF6 DLX5
8 animal organ morphogenesis GO:0009887 9.87 TP63 JAG1 BMP7
9 cell proliferation GO:0008283 9.85 TYR TP63 DLX5
10 cell cycle arrest GO:0007050 9.85 TP73 NOTCH1 IRF6
11 Notch signaling pathway GO:0007219 9.83 TP63 NOTCH1 JAG1
12 skeletal system development GO:0001501 9.83 TP63 DLX6 DLX5 BMP7
13 epidermis development GO:0008544 9.81 TP63 NOTCH1 EDAR
14 positive regulation of osteoblast differentiation GO:0045669 9.76 TP63 JAG1 BMP7
15 roof of mouth development GO:0060021 9.74 IRF6 DLX6 DLX5
16 positive regulation of epithelial cell proliferation GO:0050679 9.73 NOTCH1 DLX6 DLX5
17 odontogenesis of dentin-containing tooth GO:0042475 9.72 TP63 EDAR BMP7
18 positive regulation of Notch signaling pathway GO:0045747 9.71 TP63 NOTCH1 JAG1
19 branching morphogenesis of an epithelial tube GO:0048754 9.69 NOTCH1 BMP7
20 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.68 TP73 TP63
21 negative regulation of neurogenesis GO:0050768 9.68 NOTCH1 BMP7
22 establishment of skin barrier GO:0061436 9.68 TP63 FLG
23 protein tetramerization GO:0051262 9.67 TP73 TP63
24 neuronal stem cell population maintenance GO:0097150 9.67 NOTCH1 JAG1
25 epithelial cell differentiation GO:0030855 9.67 TP63 DLX6 DLX5 BMP7
26 head development GO:0060322 9.66 DLX6 DLX5
27 response to vitamin D GO:0033280 9.66 TYR BMP7
28 embryo development GO:0009790 9.65 DLX6 DLX5
29 negative regulation of stem cell differentiation GO:2000737 9.65 NOTCH1 JAG1
30 positive regulation of keratinocyte proliferation GO:0010838 9.64 TP63 CDH3
31 pulmonary valve morphogenesis GO:0003184 9.64 NOTCH1 JAG1
32 response to muramyl dipeptide GO:0032495 9.62 NOTCH1 JAG1
33 Notch signaling involved in heart development GO:0061314 9.62 NOTCH1 JAG1
34 cranial skeletal system development GO:1904888 9.61 TP63 IRF6
35 heart trabecula morphogenesis GO:0061384 9.6 NOTCH1 BMP7
36 pericardium morphogenesis GO:0003344 9.59 NOTCH1 BMP7
37 negative regulation of neuron differentiation GO:0045665 9.56 TP73 NOTCH1 JAG1 BMP7
38 distal tubule development GO:0072017 9.51 NOTCH1 JAG1
39 cardiac septum morphogenesis GO:0060411 9.5 NOTCH1 JAG1 BMP7
40 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.48 NOTCH1 JAG1
41 anatomical structure formation involved in morphogenesis GO:0048646 9.46 TP63 DLX6 DLX5 BMP7
42 embryonic limb morphogenesis GO:0030326 9.35 TP63 NOTCH1 DLX6 DLX5 BMP7
43 keratinocyte differentiation GO:0030216 9.1 TP63 NOTCH1 LORICRIN JAG1 IRF6 FLG

Molecular functions related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 9.32 NOTCH1 JAG1
2 structural constituent of epidermis GO:0030280 9.26 LORICRIN FLG
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.26 TP73 TP63 IRF6 DLX5
4 MDM2/MDM4 family protein binding GO:0097371 9.16 TP73 TP63
5 p53 binding GO:0002039 8.8 TP73 TP63 SMARCA4

Sources for Orofacial Cleft 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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