Human Phenotype Ontology

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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

Grandparent Node:
Abnormality of the tarsal bones (HP:0001850)

Parent Node:
Abnormal talus morphology (HP:0008365)

..Starting node
..Rocker bottom foot (HP:0001838)

Term ID:

1838

Name:

Rocker bottom foot

Synonym:

Congenital vertical talus; Rocker bottom feet; Rocker bottom foot; Rocker-bottom feet; Rockerbottom feet

Definition:

The presence of both a prominent heel and a convex contour of the sole.

Comments:

Reference:

HP:0001838

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed talus ossification (HP:0011836)

Osteolysis of talus (HP:0008095)

Shortening of the talar neck (HP:0008117)

Tarsal osteovalgus (HP:0001775)

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

Genes (64) :AARS1 ADAT3 ARID1B ATPAF2 BAP1 CCDC8 CHRNG CLTCL1 COL25A1 CUL7 DOK7 DPH5 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 FGFR2 FIG4 FLNA GLE1 H4C9 HOXD10 IPO8 KATNB1 KIF14 LMNA MAF MAGEL2 MUSK MYBPC1 MYH3 MYL11 NALCN NDE1 NUP188 NUP88 OBSL1 OTUD5 PEX1 PHGDH PLAA POR PSAT1 PUF60 RBM10 RELN RSPRY1 SAMD9 SCYL2 SLC29A3 SLC2A10 SMPD4 TELO2 TNNI2 TNNT3 TOR1A TPM2 VAC14 WRN ZC4H2 ZMPSTE24

Diseases (60) :OMIM:616339 ORPHA:363528 ORPHA:251056 OMIM:604273 OMIM:619762 ORPHA:2616 OMIM:265000 ORPHA:453510 ORPHA:1143 OMIM:618389 OMIM:620070 ORPHA:1270 OMIM:211180 OMIM:610758 OMIM:610756 OMIM:616570 OMIM:214150 OMIM:619072 OMIM:207410 ORPHA:3472 OMIM:304120 OMIM:611890 OMIM:619951 OMIM:192950 OMIM:619472 ORPHA:89844 OMIM:616258 ORPHA:79474 ORPHA:1272 OMIM:615547 OMIM:208150 OMIM:614335 ORPHA:1146 OMIM:193700 OMIM:619110 OMIM:618804 OMIM:618393 OMIM:301056 OMIM:214100 OMIM:256520 OMIM:617527 ORPHA:521426 OMIM:201750 ORPHA:95699 OMIM:616038 ORPHA:508488 ORPHA:2886 ORPHA:457395 OMIM:617053 OMIM:618766 OMIM:602782 ORPHA:3342 OMIM:618622 ORPHA:488642 OMIM:601680 OMIM:618947 OMIM:108120 ORPHA:902 OMIM:301041 OMIM:275210

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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