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:0008365 | HP:0008365 | Abnormal talus morphology | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | | | | 219 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | EMG1 CL E G H | 10436 | 16912 | OMIM:211180 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | | | | 20 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 175 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | HOXD10 CL E G H | 3236 | 5133 | OMIM:192950 | Vertical talus, congenital | | | | 33 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 10 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | | | | 9 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 66 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 166 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 48 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 96 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | | | | 217 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | | | | 217 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 76 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 334 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | | | | 37 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 37 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 43 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | | | | 54 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0008365 | HP:0008365 | Abnormal talus morphology | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0008365 | HP:0041164 | Fractured talus | 1 | CL E G H | | | | | | | | | | |
HP:0008365 | HP:0011836 | Delayed talus ossification | 1 | CL E G H | | | | | | | | | | |
HP:0008365 | HP:0008095 | Osteolysis of talus | 1 | CL E G H | | | | | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | EMG1 CL E G H | 10436 | 16912 | OMIM:211180 | Bowen-Conradi syndrome | . | | | 2 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008365 | HP:0033977 | Talar aplasia | 1 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0008365 | HP:0001775 | Tarsal osteovalgus | 1 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | HOXD10 CL E G H | 3236 | 5133 | OMIM:192950 | Vertical talus, congenital | . | | | 33 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 66 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 166 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 48 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0008365 | HP:0008117 | Shortening of the talar neck | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0008365 | HP:0008117 | Shortening of the talar neck | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 43 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 54 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0008365 | HP:0001838 | Rocker bottom foot | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |