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:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | | | | | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | | | | 233 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 99 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 12 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 4 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | | | | 1952 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | HP:0040283 - Occasional | | | 140 | | |
HP:0000419 | HP:0000419 | Abnormal nasal septum morphology | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0000419 | HP:0009936 | Narrow nasal septum | 1 | CL E G H | | | | | | | | | | |
HP:0000419 | HP:0000420 | Short nasal septum | 1 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0000419 | HP:0005322 | Prominent nasal septum | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000419 | HP:0005322 | Prominent nasal septum | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040281 - Very frequent | | | 291 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000419 | HP:0005322 | Prominent nasal septum | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040281 - Very frequent | | | 250 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000419 | HP:0009935 | Aplasia/Hypoplasia of the nasal septum | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | | | | 233 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000419 | HP:0009935 | Aplasia/Hypoplasia of the nasal septum | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000419 | HP:0004411 | Deviated nasal septum | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0000419 | HP:3000034 | Abnormality nasal septum cartilage morphology | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000419 | HP:0009935 | Aplasia/Hypoplasia of the nasal septum | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000419 | HP:0009746 | Thick nasal septum | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000419 | HP:3000034 | Abnormality nasal septum cartilage morphology | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000419 | HP:0009935 | Aplasia/Hypoplasia of the nasal septum | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000419 | HP:0033434 | Nasal septum perforation | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000419 | HP:0000420 | Short nasal septum | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000419 | HP:3000034 | Abnormality nasal septum cartilage morphology | 1 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0000419 | HP:0009935 | Aplasia/Hypoplasia of the nasal septum | 1 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0000419 | HP:3000034 | Abnormality nasal septum cartilage morphology | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0000419 | HP:0005104 | Hypoplastic nasal septum | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | . | | | 233 | | |
HP:0000419 | HP:0005104 | Hypoplastic nasal septum | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0000419 | HP:0005273 | Absent nasal septal cartilage | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000419 | HP:0005273 | Absent nasal septal cartilage | 2 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0000419 | HP:0005273 | Absent nasal septal cartilage | 2 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000419 | HP:0033380 | Nasal chondritis | 2 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |