| Human Phenotype
Ontology
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Grandparent Node:
 Mode of inheritance (HP:0000005) | Parent Node:
Multifactorial inheritance (HP:0001426) | ..Starting node
..Digenic inheritance (HP:0010984)
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| Term ID: |
10984 |
| Name: |
Digenic inheritance |
| Synonym: |
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| Definition: |
A type of multifactorial inheritance governed by the simultaneous action of two gene loci. |
| Comments: |
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| Reference: |
HP:0010984 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Oligogenic inheritance (HP:0010983)
| ..Polygenic inheritance (HP:0010982)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 199 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 74 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 56 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 52 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 60 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | | | HP:0010984 | HP:0010984 | Digenic inheritance | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
Genes (14) :ADH5 DNMT3B DYNC2H1 GDF3 GDF6 GJB2 GJB3 GJB6 LRIF1 NEK1 SLCO1B1 SLCO1B3 SMCHD1 TYMS
Diseases (10) :OMIM:619151 OMIM:619478 OMIM:613091 OMIM:613703 OMIM:220290 OMIM:619477 OMIM:263520 OMIM:237450 OMIM:158901 OMIM:620040 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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