Human Phenotype Ontology 
Grandparent Node:
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Cephalocele (HP:0011815)help
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Encephalocele (HP:0002084)help
..Starting node
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Occipital encephalocele (HP:0002085)help
Term ID: 2085
Name: Occipital encephalocele
Synonym: Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele
Definition: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Comments:
Reference: HP:0002085
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnterior basal encephalocele (HP:0006992) help
..expandAnterior encephalocele (HP:0007035) help
..expandBasal encephalocele (HP:0011817) help
..expandCranium bifidum occultum (HP:0004423) help
..expandFrontal encephalocele (HP:0007330) help
..expandMeningoencephalocele (HP:0006888) help
..expandOrbital encephalocele (HP:0007115) help
..expandParietal encephalocele (HP:0011816) 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:0002085HP:0002085Occipital encephalocele0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0002085HP:0002085Occipital encephalocele0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002085HP:0002085Occipital encephalocele0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0002085HP:0002085Occipital encephalocele0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0002085HP:0002085Occipital encephalocele0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0002085HP:0002085Occipital encephalocele0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0002085HP:0002085Occipital encephalocele0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0002085HP:0002085Occipital encephalocele0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040280 - ObligateHP:0003577 - Congenital onset247
HP:0002085HP:0002085Occipital encephalocele0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0002085HP:0002085Occipital encephalocele0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent177
HP:0002085HP:0002085Occipital encephalocele0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0002085HP:0002085Occipital encephalocele0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0002085HP:0002085Occipital encephalocele0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0002085HP:0002085Occipital encephalocele0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0002085HP:0002085Occipital encephalocele0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0002085HP:0002085Occipital encephalocele0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0002085HP:0002085Occipital encephalocele0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0002085HP:0002085Occipital encephalocele0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0002085HP:0002085Occipital encephalocele0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0002085HP:0002085Occipital encephalocele0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0002085HP:0002085Occipital encephalocele0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0002085HP:0002085Occipital encephalocele0LAMB1 CL E G H39126486ORPHA:352682Cobblestone lissencephaly without muscular or ocular involvementHP:0040282 - Frequent71
HP:0002085HP:0002085Occipital encephalocele0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0002085HP:0002085Occipital encephalocele0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0002085HP:0002085Occipital encephalocele0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002085HP:0002085Occipital encephalocele0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0002085HP:0002085Occipital encephalocele0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent
HP:0002085HP:0002085Occipital encephalocele0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0002085HP:0002085Occipital encephalocele0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0002085HP:0002085Occipital encephalocele0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0002085HP:0002085Occipital encephalocele0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0002085HP:0002085Occipital encephalocele0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0002085HP:0002085Occipital encephalocele0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0002085HP:0002085Occipital encephalocele0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0002085HP:0002085Occipital encephalocele0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0002085HP:0002085Occipital encephalocele0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0002085HP:0002085Occipital encephalocele0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0002085HP:0002085Occipital encephalocele0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0002085HP:0002085Occipital encephalocele0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0002085HP:0002085Occipital encephalocele0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0002085HP:0002085Occipital encephalocele0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0002085HP:0002085Occipital encephalocele0TMEM231 CL E G H7958337234OMIM:615397Meckel syndrome, type 11.33
HP:0002085HP:0002085Occipital encephalocele0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0002085HP:0002085Occipital encephalocele0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0002085HP:0002085Occipital encephalocele0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0002085HP:0002085Occipital encephalocele0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8HP:0040283 - Occasional5
HP:0002085HP:0002085Occipital encephalocele0TXNDC15 CL E G H7977020652OMIM:6198792


Genes (37) :ALX4 ARL13B B4GAT1 B9D1 B9D2 C2CD3 CC2D2A CEP290 COL18A1 CSPP1 CYP26B1 FKRP FKTN GMPPB HOXD13 INPP5E KIAA0586 LAMB1 LARGE1 MKS1 MSX2 PAK2 POMGNT1 POMK POMT1 POMT2 RPGRIP1L SF3B2 SMO TCTN2 TCTN3 TMEM107 TMEM218 TMEM231 TMEM67 TMTC3 TXNDC15

Diseases (32) :ORPHA:60015 OMIM:612291 OMIM:615287 OMIM:614209 OMIM:614175 OMIM:615948 ORPHA:1454 OMIM:612284 OMIM:610188 ORPHA:1571 OMIM:267750 OMIM:615636 ORPHA:397715 OMIM:614416 ORPHA:370959 OMIM:236670 ORPHA:887 ORPHA:352682 OMIM:615191 OMIM:249000 OMIM:611561 OMIM:164210 OMIM:241800 OMIM:613885 OMIM:614815 OMIM:617562 OMIM:619562 OMIM:615397 OMIM:216360 OMIM:607361 OMIM:617255 OMIM:619879
 

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