Term ID: |
1833 |
Name: |
Long foot |
Synonym: |
Disproportionately large feet; large feet; long feet; Long foot |
Definition: |
Increased back to front length of the foot. |
Comments: |
|
Reference: |
HP:0001833 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Abnormal foot bone ossification (HP:0010675)
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..Abnormal metatarsal morphology (HP:0001832)
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..Abnormality of dorsoventral patterning of the limbs (HP:0100270)
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..Abnormality of the Achilles tendon (HP:0005109)
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..Abnormality of the plantar skin of foot (HP:0100872)
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..Abnormality of the tarsal bones (HP:0001850)
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..Abnormality of toe (HP:0001780)
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..Ankylosis of feet small joints (HP:0008090)
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..Aplasia/Hypoplasia involving bones of the feet (HP:0006494)
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..Autoamputation of foot (HP:0001868)
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..Broad foot (HP:0001769)
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..Duplication involving bones of the feet (HP:0009136)
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..Equinovarus deformity (HP:0008110)
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..Foot asymmetry (HP:0010507)
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..Foot joint contracture (HP:0008366)
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..Foot osteomyelitis (HP:0001886)
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..Medial deviation of the foot (HP:0008082)
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..Medial rotation of the medial malleolus (HP:0008132)
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..Narrow foot (HP:0001786)
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..Osteolysis involving bones of the feet (HP:0009134)
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..Pes cavus (HP:0001761)
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..Pes planus (HP:0001763)
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..Pes valgus (HP:0008081)
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..Podagra (HP:0001854)
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..Positional foot deformity (HP:0005656)
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..Split foot (HP:0001839)
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..Structural foot deformity (HP:0010219)
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..Synostosis involving bones of the feet (HP:0009140)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0001833 | HP:0001833 | Long foot | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | | HP:0001833 | HP:0001833 | Long foot | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | | HP:0001833 | HP:0001833 | Long foot | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | | HP:0001833 | HP:0001833 | Long foot | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | | HP:0001833 | HP:0001833 | Long foot | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | | HP:0001833 | HP:0001833 | Long foot | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | | HP:0001833 | HP:0001833 | Long foot | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | | HP:0001833 | HP:0001833 | Long foot | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | | HP:0001833 | HP:0001833 | Long foot | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | | HP:0001833 | HP:0001833 | Long foot | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | | HP:0001833 | HP:0001833 | Long foot | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | | HP:0001833 | HP:0001833 | Long foot | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | | HP:0001833 | HP:0001833 | Long foot | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | | HP:0001833 | HP:0001833 | Long foot | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | | HP:0001833 | HP:0001833 | Long foot | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | | HP:0001833 | HP:0001833 | Long foot | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | | HP:0001833 | HP:0001833 | Long foot | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | | HP:0001833 | HP:0001833 | Long foot | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | | HP:0001833 | HP:0001833 | Long foot | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | | HP:0001833 | HP:0001833 | Long foot | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | | HP:0001833 | HP:0001833 | Long foot | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040282 - Frequent | | | 1952 | | | HP:0001833 | HP:0001833 | Long foot | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | | HP:0001833 | HP:0001833 | Long foot | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | | HP:0001833 | HP:0001833 | Long foot | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | | HP:0001833 | HP:0001833 | Long foot | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | | HP:0001833 | HP:0001833 | Long foot | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | | HP:0001833 | HP:0001833 | Long foot | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | | HP:0001833 | HP:0001833 | Long foot | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | | HP:0001833 | HP:0001833 | Long foot | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | | HP:0001833 | HP:0001833 | Long foot | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | | HP:0001833 | HP:0001833 | Long foot | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | | HP:0001833 | HP:0001833 | Long foot | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | | HP:0001833 | HP:0001833 | Long foot | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040281 - Very frequent | | | 13 | | | HP:0001833 | HP:0001833 | Long foot | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
Genes (28) :AGPAT2 AIP ASNS BSCL2 CAV1 CAVIN1 EED FIBP FLNA FOS HERC1 INSR KMT5B MEN1 NF1 NSD1 PACS1 PDGFRB PIGL POLR3A PPARG RNU4ATAC RPS6KA3 SETD2 SIM1 SUZ12 UBE3B UPF3B
Diseases (28) :ORPHA:528 OMIM:608594 ORPHA:99725 OMIM:615574 OMIM:269700 OMIM:617561 ORPHA:500095 OMIM:617107 OMIM:305620 OMIM:617011 ORPHA:457359 OMIM:246200 ORPHA:508 OMIM:617788 ORPHA:97685 ORPHA:363700 OMIM:117550 OMIM:615009 OMIM:616592 OMIM:280000 OMIM:264090 OMIM:210710 OMIM:300844 OMIM:616831 ORPHA:171829 OMIM:618786 ORPHA:2707 OMIM:300676 |
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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