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Hello! Guest! Please Login or Register! Clinician Mode
Examples Gene: MT-ND1, POLG,
Region: M:1-1000
Variant: m.8993T>G, 1:g.10042757T>C
rs3888511 MSCV_0000006,
ClinVar: RCV000000015,
Disease: Leigh syndrome,
Phenotype: Retinopathy
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Human Disease and Phenotype Search
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| 1 | Input Term | OMIM ID | OMIM Disorder | Gene | MESH | Top Match |
| 1:1 | KB | 148050    | #148050 KBG SYNDROME; KBGS Synonym: KBG syndrome, 148050; KBGS Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies | ANKRD11 | MESH:C537015 | 1 0.00/0.00 |
| 1:2 | KB | 600231 | #600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB Synonym: Palmoplantar keratoderma, Bothnian type, 600231; PPKB Palmoplantar keratoderma, Bothnian type|PPKB | AQP5 | MESH:C536173 | 1 0.00/0.00 |
| 1:3 | KB | 606445 | #606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL Synonym: Persistent polyclonal B-cell lymphocytosis, 606445; PPBL | CARD11 | MESH:C564707 | 0 0.00/0.00 |
| 1:4 | KB | 274000 | #274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Synonym: Thrombocytopenia-absent radius syndrome, 274000; TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb|Radial Aplasia-Amegakaryocytic Thrombocytopenia|Radial Aplasia-Thrombocytopenia Syndrome|TAR|TAR Syndrome|Thrombocytopenia Absent Radii|Thrombocytopenia absent radius syndrome|Thrombocytopenia-Absent Radius Syn | RBM8A | MESH:C536940 | 1 0.00/0.00 |
| 1:5 | KB | 613444 | #613444 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB Synonym: Chromosome 16p11.2 deletion syndrome, 220kb | AF8T | 1 0.00/0.00 | |
| 1:6 | KB | 611913 | #611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB Synonym: Chromosome 16p11.2 deletion syndrome, 593kb | AF8T | 1 0.00/0.00 | |
| 1:7 | KB | 136570 | #136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB Synonym: Chromosome 16p12.1 deletion syndrome, 520kb | AF8T | 1 0.00/0.00 | |
| 1:8 | KB | 613444 | #613444 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB Synonym: [Body mass index QTL16] | AF8T | 1 0.00/0.00 | |
| 1:9 | KB | 123270 | 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE Synonym: [Creatine kinase, brain type, ectopic expression of] | CKBE | 1 0.00/0.00 | |
| 1:10 | KB | 611913 | #611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB Synonym: {Autism susceptibility 14A} | AF8T | 1 0.00/0.00 | |
| 1:11 | KB | 127600 | %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID Synonym: Dyskeratosis, hereditary benign intraepithelial | 0 | 0 0.00/0.00 | |
| 1:12 | KB | 601228 | #601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 Synonym: Polyposis syndrome, mixed hereditary 1 | AF8T | 0 0.00/0.00 | |
| 1:13 | KB | 608687 | #608687 SPINOCEREBELLAR ATAXIA 20; SCA20 Synonym: Spinocerebellar ataxia 20 | AF8T | 0 0.00/0.00 | |
| 1:14 | KB | 601228 | #601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 Synonym: {Colorectal cancer, susceptibility to, 4} | AF8T | 0 0.00/0.00 | |
| Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release. | ||||||
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