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:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | | | | 2 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | | | | 34 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | | | | 34 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | | | | 40 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0200005 | HP:0200005 | Abnormal shape of the palpebral fissure | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 5769 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 7642 | | |
HP:0200005 | HP:0007835 | S-shaped palpebral fissures | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1086 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 158 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 340 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 58 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 410 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 147 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 87 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 157 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 53 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 107 | | |
HP:0200005 | HP:0007835 | S-shaped palpebral fissures | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1349 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 9 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 391 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 274 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 2 | | |
HP:0200005 | HP:0007874 | Almond-shaped palpebral fissure | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 125 | | |