Human Phenotype Ontology 
Grandparent Node:
expand
Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
expand
Abnormality of brain morphology (HP:0012443)help
..Starting node
..expand
Holoprosencephaly (HP:0001360)help
Term ID: 1360
Name: Holoprosencephaly
Synonym: Single brain ventricle
Definition: Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Comments:
Reference: HP:0001360
Genes and Diseases:
 
       Child Nodes:
........expandSemilobar holoprosencephaly (HP:0002507) help
........expandLobar holoprosencephaly (HP:0006870) help
........expandAlobar holoprosencephaly (HP:0006988) help
........expandEthmocephaly (HP:0030779) help

 Sister Nodes: 
..expandAbnormal brainstem morphology (HP:0002363) help
..expandAbnormal cerebral vascular morphology (HP:0100659) help
..expandAbnormal cerebral ventricle morphology (HP:0002118) help
..expandAbnormal forebrain morphology (HP:0100547) help
..expandAbnormal hindbrain morphology (HP:0011282) help
..expandAbnormal midbrain morphology (HP:0002418) help
..expandAbnormal pineal morphology (HP:0012681) help
..expandAbnormality of the pituitary gland (HP:0012503) help
..expandCopper accumulation in brain (HP:0012676) help
..expandIron accumulation in brain (HP:0012675) help
..expandKernicterus (HP:0001343) help
..expandobsolete Brain very small (HP:0001322) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001360HP:0001360Holoprosencephaly0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional43
HP:0001360HP:0001360Holoprosencephaly0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0001360HP:0001360Holoprosencephaly0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0001360HP:0001360Holoprosencephaly0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0001360HP:0001360Holoprosencephaly0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0001360HP:0001360Holoprosencephaly0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0001360HP:0001360Holoprosencephaly0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0001360HP:0001360Holoprosencephaly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0001360HP:0001360Holoprosencephaly0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0001360HP:0001360Holoprosencephaly0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0001360HP:0001360Holoprosencephaly0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0001360HP:0001360Holoprosencephaly0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0001360HP:0001360Holoprosencephaly0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001360HP:0001360Holoprosencephaly0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0001360HP:0001360Holoprosencephaly0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0001360HP:0001360Holoprosencephaly0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040282 - Frequent2
HP:0001360HP:0001360Holoprosencephaly0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001360HP:0001360Holoprosencephaly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0001360HP:0001360Holoprosencephaly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001360HP:0001360Holoprosencephaly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001360HP:0001360Holoprosencephaly0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0001360HP:0001360Holoprosencephaly0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0001360HP:0001360Holoprosencephaly0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0001360HP:0001360Holoprosencephaly0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0001360HP:0001360Holoprosencephaly0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0001360HP:0001360Holoprosencephaly0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0001360HP:0001360Holoprosencephaly0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040283 - Occasional145
HP:0001360HP:0001360Holoprosencephaly0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional157
HP:0001360HP:0001360Holoprosencephaly0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional184
HP:0001360HP:0001360Holoprosencephaly0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4HP:0040283 - Occasional184
HP:0001360HP:0001360Holoprosencephaly0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0001360HP:0001360Holoprosencephaly0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0001360HP:0001360Holoprosencephaly0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0001360HP:0001360Holoprosencephaly0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0001360HP:0001360Holoprosencephaly0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0001360HP:0001360Holoprosencephaly0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0001360HP:0001360Holoprosencephaly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0001360HP:0001360Holoprosencephaly0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0001360HP:0001360Holoprosencephaly0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional34
HP:0001360HP:0001360Holoprosencephaly0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040281 - Very frequent
HP:0001360HP:0001360Holoprosencephaly0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0001360HP:0001360Holoprosencephaly0HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040283 - Occasional21
HP:0001360HP:0001360Holoprosencephaly0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040283 - Occasional134
HP:0001360HP:0001360Holoprosencephaly0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional136
HP:0001360HP:0001360Holoprosencephaly0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0001360HP:0001360Holoprosencephaly0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0001360HP:0001360Holoprosencephaly0MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040282 - Frequent183
HP:0001360HP:0001360Holoprosencephaly0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0001360HP:0001360Holoprosencephaly0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0001360HP:0001360Holoprosencephaly0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0001360HP:0001360Holoprosencephaly0PLCH1 CL E G H2300729185OMIM:619895
HP:0001360HP:0001360Holoprosencephaly0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional180
HP:0001360HP:0001360Holoprosencephaly0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional213
HP:0001360HP:0001360Holoprosencephaly0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040283 - Occasional221
HP:0001360HP:0001360Holoprosencephaly0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0001360HP:0001360Holoprosencephaly0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001360HP:0001360Holoprosencephaly0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0001360HP:0001360Holoprosencephaly0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0001360HP:0001360Holoprosencephaly0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0001360HP:0001360Holoprosencephaly0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0001360HP:0001360Holoprosencephaly0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0001360HP:0001360Holoprosencephaly0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0001360HP:0001360Holoprosencephaly0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040283 - Occasional365
HP:0001360HP:0001360Holoprosencephaly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0001360HP:0001360Holoprosencephaly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0001360HP:0001360Holoprosencephaly0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0001360HP:0001360Holoprosencephaly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0001360HP:0001360Holoprosencephaly0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001360HP:0001360Holoprosencephaly0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0001360HP:0001360Holoprosencephaly0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0001360HP:0001360Holoprosencephaly0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0001360HP:0001360Holoprosencephaly0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0001360HP:0001360Holoprosencephaly0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisorHP:0040282 - Frequent67
HP:0001360HP:0001360Holoprosencephaly0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0001360HP:0001360Holoprosencephaly0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0001360HP:0001360Holoprosencephaly0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001360HP:0001360Holoprosencephaly0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0001360HP:0001360Holoprosencephaly0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0001360HP:0001360Holoprosencephaly0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0001360HP:0001360Holoprosencephaly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0001360HP:0001360Holoprosencephaly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0001360HP:0001360Holoprosencephaly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0001360HP:0001360Holoprosencephaly0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0001360HP:0001360Holoprosencephaly0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0001360HP:0001360Holoprosencephaly0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0001360HP:0001360Holoprosencephaly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0001360HP:0001360Holoprosencephaly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0001360HP:0001360Holoprosencephaly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0001360HP:0001360Holoprosencephaly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0001360HP:0001360Holoprosencephaly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0001360HP:0001360Holoprosencephaly0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0001360HP:0001360Holoprosencephaly0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001360HP:0001360Holoprosencephaly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0001360HP:0001360Holoprosencephaly0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040282 - Frequent2
HP:0001360HP:0001360Holoprosencephaly0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies.27
HP:0001360HP:0001360Holoprosencephaly0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0001360HP:0001360Holoprosencephaly0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0001360HP:0030779Ethmocephaly1 CL E G H
HP:0001360HP:0006870Lobar holoprosencephaly1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0001360HP:0006870Lobar holoprosencephaly1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0001360HP:0006870Lobar holoprosencephaly1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0001360HP:0006870Lobar holoprosencephaly1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0001360HP:0002507Semilobar holoprosencephaly1CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040283 - Occasional2
HP:0001360HP:0006870Lobar holoprosencephaly1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0001360HP:0006870Lobar holoprosencephaly1FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0001360HP:0006870Lobar holoprosencephaly1FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0001360HP:0006870Lobar holoprosencephaly1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0001360HP:0006988Alobar holoprosencephaly1PLCH1 CL E G H2300729185OMIM:619895
HP:0001360HP:0002507Semilobar holoprosencephaly1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7.665
HP:0001360HP:0006988Alobar holoprosencephaly1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0001360HP:0006870Lobar holoprosencephaly1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0001360HP:0006870Lobar holoprosencephaly1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0001360HP:0006870Lobar holoprosencephaly1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0001360HP:0006870Lobar holoprosencephaly1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0001360HP:0002507Semilobar holoprosencephaly1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001360HP:0002507Semilobar holoprosencephaly1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0001360HP:0006988Alobar holoprosencephaly1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0001360HP:0002507Semilobar holoprosencephaly1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001360HP:0006988Alobar holoprosencephaly1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0001360HP:0002507Semilobar holoprosencephaly1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0001360HP:0006870Lobar holoprosencephaly1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001360HP:0006870Lobar holoprosencephaly1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0001360HP:0006870Lobar holoprosencephaly1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0001360HP:0002507Semilobar holoprosencephaly1TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0001360HP:0006870Lobar holoprosencephaly1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0001360HP:0006870Lobar holoprosencephaly1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0001360HP:0006870Lobar holoprosencephaly1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0001360HP:0006870Lobar holoprosencephaly1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0001360HP:0006870Lobar holoprosencephaly1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0001360HP:0006870Lobar holoprosencephaly1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0001360HP:0025670Syntelencephaly1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0001360HP:0006870Lobar holoprosencephaly1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0001360HP:0006988Alobar holoprosencephaly1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0001360HP:0002507Semilobar holoprosencephaly1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534


Genes (77) :B3GALNT2 B9D1 B9D2 BUB1 BUB1B BUB3 C2CD3 CC2D2A CDON CEP290 CEP57 CHD7 CILK1 CNOT1 CSPP1 DHCR7 DISP1 DLL1 FGF8 FGFR1 FGFR3 FKRP FKTN FOXA2 FOXH1 GAS1 GLI2 GLI3 GMPPB GPKOW HESX1 HOXA2 L1CAM LARGE1 LHX4 MKS1 MTHFR NODAL OTX2 PLCH1 POMGNT1 POMT1 POMT2 POU1F1 PPP1R12A PROP1 PRRX1 PTCH1 RAD21 RB1 RPGRIP1 RPGRIP1L RTTN SALL1 SEC31A SEMA3E SHH SIX3 SMC1A SOX2 STAG2 SUFU TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TXNDC15 VANGL2 WDR81 ZIC2

Diseases (46) :ORPHA:588 ORPHA:564 ORPHA:1052 OMIM:615948 OMIM:614226 ORPHA:280200 OMIM:214800 ORPHA:138 OMIM:612651 ORPHA:556955 OMIM:619033 OMIM:270400 ORPHA:818 ORPHA:2117 OMIM:615465 ORPHA:93274 OMIM:253800 ORPHA:95494 OMIM:610829 ORPHA:672 OMIM:146510 ORPHA:2570 ORPHA:83463 ORPHA:2182 ORPHA:563612 ORPHA:990 OMIM:619895 OMIM:618820 OMIM:202650 OMIM:610828 OMIM:614701 ORPHA:1587 ORPHA:468631 OMIM:107480 OMIM:618651 OMIM:142945 OMIM:611638 OMIM:147250 OMIM:157170 OMIM:301044 ORPHA:77298 OMIM:301043 OMIM:142946 OMIM:619879 OMIM:617967 OMIM:609637
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.