Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebral morphology (HP:0002060)help
Grandparent Node:
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Aplasia/Hypoplasia involving the central nervous system (HP:0002977)help
Parent Node:
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Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
..Starting node
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Anencephaly (HP:0002323)help
Term ID: 2323
Name: Anencephaly
Synonym: Embryonic anencephaly; Fetal anencephaly; Foetal anencephaly
Definition: Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.
Comments:
Reference: HP:0002323
Genes and Diseases:
 
       Child Nodes:
........expandArrhinencephaly (HP:0002139) help
........expandHydranencephaly (HP:0002324) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the corpus callosum (HP:0007370) help
..expandAprosencephaly (HP:0007268) help
..expandCerebral hypoplasia (HP:0006872) help
..expandMicrocephaly (HP:0000252) 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:0002323HP:0002323Anencephaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0002323HP:0002323Anencephaly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0002323HP:0002323Anencephaly0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0002323HP:0002323Anencephaly0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0002323HP:0002323Anencephaly0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0002323HP:0002323Anencephaly0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0002323HP:0002323Anencephaly0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10HP:0040283 - Occasional34
HP:0002323HP:0002323Anencephaly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0002323HP:0002323Anencephaly0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040283 - OccasionalHP:0003577 - Congenital onset247
HP:0002323HP:0002323Anencephaly0CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to.3
HP:0002323HP:0002323Anencephaly0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0002323HP:0002323Anencephaly0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4HP:0040283 - Occasional342
HP:0002323HP:0002323Anencephaly0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0002323HP:0002323Anencephaly0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0002323HP:0002323Anencephaly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0002323HP:0002323Anencephaly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0002323HP:0002323Anencephaly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0002323HP:0002323Anencephaly0DACT1 CL E G H5133917748ORPHA:63260CraniorachischisisHP:0040281 - Very frequent2
HP:0002323HP:0002323Anencephaly0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0002323HP:0002323Anencephaly0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0002323HP:0002323Anencephaly0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0002323HP:0002323Anencephaly0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome47
HP:0002323HP:0002323Anencephaly0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0002323HP:0002323Anencephaly0FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to.3
HP:0002323HP:0002323Anencephaly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0002323HP:0002323Anencephaly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0002323HP:0002323Anencephaly0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0002323HP:0002323Anencephaly0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0002323HP:0002323Anencephaly0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0002323HP:0002323Anencephaly0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0002323HP:0002323Anencephaly0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0002323HP:0002323Anencephaly0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0002323HP:0002323Anencephaly0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0002323HP:0002323Anencephaly0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0002323HP:0002323Anencephaly0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0002323HP:0002323Anencephaly0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2.167
HP:0002323HP:0002323Anencephaly0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0002323HP:0002323Anencephaly0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0002323HP:0002323Anencephaly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0002323HP:0002323Anencephaly0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0002323HP:0002323Anencephaly0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0002323HP:0002323Anencephaly0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0002323HP:0002323Anencephaly0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0002323HP:0002323Anencephaly0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0002323HP:0002323Anencephaly0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0002323HP:0002323Anencephaly0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0002323HP:0002323Anencephaly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0002323HP:0002323Anencephaly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0002323HP:0002323Anencephaly0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0002323HP:0002323Anencephaly0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0002323HP:0002323Anencephaly0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0002323HP:0002323Anencephaly0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0002323HP:0002323Anencephaly0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0002323HP:0002323Anencephaly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0002323HP:0002323Anencephaly0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0002323HP:0002323Anencephaly0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0002323HP:0002323Anencephaly0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0002323HP:0002323Anencephaly0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0002323HP:0002323Anencephaly0TBXT CL E G H686211515OMIM:182940Neural tube defects, susceptibility to.
HP:0002323HP:0002323Anencephaly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0002323HP:0002323Anencephaly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0002323HP:0002323Anencephaly0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0002323HP:0002323Anencephaly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0002323HP:0002323Anencephaly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0002323HP:0002323Anencephaly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0002323HP:0002323Anencephaly0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 2.45
HP:0002323HP:0002323Anencephaly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0002323HP:0002323Anencephaly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0002323HP:0002323Anencephaly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0002323HP:0002323Anencephaly0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0002323HP:0002323Anencephaly0TRIM36 CL E G H5552116280OMIM:206500ANENCEPHALY; ANPH1
HP:0002323HP:0002323Anencephaly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0002323HP:0002323Anencephaly0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0002323HP:0002323Anencephaly0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0002323HP:0002323Anencephaly0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0002323HP:0002323Anencephaly0VANGL1 CL E G H8183915512OMIM:182940Neural tube defects, susceptibility to.111
HP:0002323HP:0002323Anencephaly0VANGL2 CL E G H5721615511OMIM:182940Neural tube defects, susceptibility to.2
HP:0002323HP:0002323Anencephaly0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27
HP:0002323HP:0002139Arrhinencephaly1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0002323HP:0002139Arrhinencephaly1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0002323HP:0002139Arrhinencephaly1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0002323HP:0002324Hydranencephaly1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0002323HP:0002139Arrhinencephaly1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0002323HP:0002139Arrhinencephaly1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0002323HP:0002139Arrhinencephaly1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0002323HP:0002139Arrhinencephaly1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0002323HP:0002139Arrhinencephaly1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0002323HP:0002139Arrhinencephaly1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0002323HP:0002324Hydranencephaly1FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0002323HP:0002139Arrhinencephaly1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0002323HP:0002139Arrhinencephaly1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0002323HP:0002139Arrhinencephaly1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0002323HP:0002324Hydranencephaly1GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0002323HP:0002139Arrhinencephaly1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0002323HP:0002139Arrhinencephaly1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0002323HP:0002139Arrhinencephaly1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0002323HP:0002139Arrhinencephaly1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0002323HP:0002139Arrhinencephaly1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0002323HP:0002139Arrhinencephaly1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0002323HP:0002139Arrhinencephaly1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002323HP:0002324Hydranencephaly1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0002323HP:0002324Hydranencephaly1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0002323HP:0002139Arrhinencephaly1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent33
HP:0002323HP:0002139Arrhinencephaly1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent34
HP:0002323HP:0002139Arrhinencephaly1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent60
HP:0002323HP:0002139Arrhinencephaly1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002323HP:0002139Arrhinencephaly1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002323HP:0002139Arrhinencephaly1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent55
HP:0002323HP:0002139Arrhinencephaly1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002323HP:0002139Arrhinencephaly1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040282 - Frequent49
HP:0002323HP:0002139Arrhinencephaly1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0002323HP:0002324Hydranencephaly1SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0002323HP:0002139Arrhinencephaly1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0002323HP:0002139Arrhinencephaly1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0002323HP:0002324Hydranencephaly1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0002323HP:0002139Arrhinencephaly1TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0002323HP:0002139Arrhinencephaly1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent56
HP:0002323HP:0002139Arrhinencephaly1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002323HP:0002139Arrhinencephaly1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0002323HP:0002139Arrhinencephaly1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0002323HP:0002324Hydranencephaly1WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies.27


Genes (66) :ADAR ARVCF ATP6V1B2 B4GAT1 B9D1 B9D2 CC2D2A CCL2 CEP290 CEP55 CHD7 COMT CPLANE1 CSPP1 DACT1 FANCB FIG4 FLVCR2 FUZ GLI3 GP1BB GPKOW HIRA HOXD13 HYLS1 IFIH1 JMJD1C KIAA0586 KIF7 LSM11 MKS1 NDE1 NUAK2 PHGDH RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPGRIP1 RPGRIP1L RREB1 SAMHD1 SEC24C SF3B4 SMOC1 SNRPB TBC1D24 TBX1 TBX15 TBXT TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TREX1 TRIM36 TXNDC15 UFD1 VAC14 VANGL1 VANGL2 WDR81

Diseases (38) :ORPHA:51 ORPHA:567 ORPHA:79500 OMIM:615287 ORPHA:564 OMIM:614175 OMIM:612284 OMIM:182940 OMIM:611134 OMIM:236500 OMIM:214800 OMIM:277170 ORPHA:63260 ORPHA:3412 ORPHA:3472 OMIM:216340 OMIM:225790 ORPHA:3027 ORPHA:672 ORPHA:2570 ORPHA:887 ORPHA:2189 OMIM:236680 OMIM:616546 OMIM:614120 OMIM:249000 OMIM:605013 OMIM:619452 OMIM:256520 OMIM:611561 ORPHA:1788 ORPHA:1106 ORPHA:1393 OMIM:260660 OMIM:614815 OMIM:603194 OMIM:206500 OMIM:617967
 

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