%D8%A7%D9%86%D8%AF%D9%85%D8%A7%D8%AC_%D9%85%D9%82%D8%AF%D9%85_%D8%A7%D9%84%D8%AF%D9%85%D8%A7%D8%BACategory:HoloprosencephalyHoloprosencefalieHoloprosencephalieHoloprosencephalyHoloprosencefaliaHoloprosenkefaliaHoloprosenc%C3%A9phalieOloprosencefaliaHoloprosencefalieHoloprozencefaliaHoloprosencefaliaHoloprozencef%C3%A1lia%E0%B9%82%E0%B8%AE%E0%B9%82%E0%B8%A5%E0%B9%82%E0%B8%9B%E0%B8%A3%E0%B9%80%E0%B8%8B%E0%B8%99%E0%B9%80%E0%B8%8B%E0%B8%9F%E0%B8%B2%E0%B8%A5%E0%B8%B5Holoprosensefali%D0%93%D0%BE%D0%BB%D0%BE%D0%BF%D1%80%D0%BE%D0%B7%D0%B5%D0%BD%D1%86%D0%B5%D1%84%D0%B0%D0%BB%D1%96%D1%8FQ1459821
about
lobar holoprosencephalyalobar holoprosencephalySemilobar holoprosencephalycyclocéphaliansYoung–Madders syndromeholoprosencephaly 2holoprosencephaly 9holoprosencephaly 6holoprosencephaly 3holoprosencephaly 7holoprosencephaly 11holoprosencephaly 5holoprosencephaly 8holoprosencephaly 4holoprosencephaly 1Steinfeld syndromeLambotte syndromeMicroform holoprosencephalyGenoa syndrome
P279
Solitary median maxillary central incisor (SMMCI) syndromeMutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defectsHoloprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedMutations in the homeodomain of the human SIX3 gene cause holoprosencephalyMutations in the human SIX3 gene in holoprosencephaly are loss of functionEYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionallyNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyPhysical mapping of the holoprosencephaly critical region in 18p11.3Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndromeFirst occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutationsFunctional analysis of mutations in TGIF associated with holoprosencephaly.Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansUnique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyDefinition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palateCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceMutations in the human Sonic Hedgehog gene cause holoprosencephalyThe interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIFStructure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephalyMutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationCyclopia-astomia-agnathia-holoprosencephaly association: a case reportMolecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutationsMutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyThe genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephalySmith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeMolecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesisHoloprosencephaly and hypognathia with two proboscides: report of a case and review of unusual proboscidesMolecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlationsHoloprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patientsMolecular detection of a Yp/18 translocation in a 45,X holoprosencephalic maleChromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotypeA sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephalyCdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephalyGas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehogCentral roles of the roof plate in telencephalic development and holoprosencephalyLoss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Holoprosencephaly and interstitial deletion of 2(p2101p2109).Giant glioependymal cyst resembling holoprosencephaly on prenatal ultrasound: case report and review of the literature.
P921
Q12770465-0BFF911B-1212-47BF-B341-4CB84F1CF391Q13374393-8174a519-4bfc-620f-1b23-6c059e8e8ce2Q13538944-F0819B25-9D14-45F3-925B-61FEC5C1A9D9Q16545395-35b17e95-430c-9c0d-a902-55ca474b3bd4Q17155571-713933e0-459d-4b90-fc9f-de3eae70c1d0Q32144127-24FBC964-9D13-42C6-98C3-6B0887C522B7Q32144142-876D6058-5601-4EF2-A5FB-63235174D817Q32144156-00C117BD-366B-462A-8172-11C4CAAC46E9Q32144169-69B09062-4E0F-42BB-90ED-A43190A9BF80Q32144181-C4EF397F-C542-4C1E-86C2-3889BE59093FQ32144196-B0A89383-20BB-45DE-82B6-64BFF4E7B973Q32144208-F1AA1A1A-3783-47B7-80CA-5312596BC0F7Q32144222-9C0C4692-2EC8-425D-AB27-31B5C52C9B00Q32144234-5DF17AEC-3E0B-4B33-991E-7D462F8B3603Q32144249-3DCDA95E-7E4D-4DA6-AED2-1E65490ED989Q43389521-b8d74d9b-4af1-a65e-a49e-a838f2bee858Q55782032-d6feba5a-484f-30bf-5b8b-0b4a29a79ee5Q56013946-bc1290d1-4606-690e-e9ac-e554f114d57cQ9390241-ce821377-47f1-d109-3fa0-f9b3e5ad9820
P279
Q54829889-EF486943-0766-452F-ACF3-6D1CE313B613Q54830115-7640D8FE-7053-4EA1-8871-66413DEFF5CEQ54834717-CADC7779-A1F1-4D90-8DD6-0EDD39FD2811Q54842583-46B35683-6493-4D3D-9B46-C4A6140ECA83Q54843028-968BDA0B-F73F-41DF-80B5-EB381C112BEFQ54844194-0A9D8DE8-ED62-467E-9E27-D4758B5B1D61Q54844613-1A48ADC0-AC10-4D92-9977-2896581AB686Q54846537-2AAA30EC-5A8A-4BAB-ABCA-13A52E42336AQ54848642-5D4E3BB4-D1E6-4F42-BB7C-B9592B7C1DDEQ54848644-8220BF4D-B8CE-4419-B70E-FD8C118FF825Q54848646-C9E692B7-49CD-46BE-9791-A99CB27A0C11Q54849489-38BC2221-648C-4817-943B-EDEBA34302A9Q54849517-C50D9E35-BEF1-42C4-926A-A087C2138E31Q54851980-98B6B65F-0FCB-4ECE-AEDD-D1C222375FD2Q54854207-83F225F3-99D8-47BB-BAE4-145D8F0A64C1Q54854211-D7233C93-0F29-43A2-B5C1-6BA1233E1482Q54854224-389BE627-A4E5-4CC5-AB90-C4366DADED58Q54871822-A5BA63D1-8C69-4AEC-8068-0DB725E41DA1Q54871823-606CEBD5-DCC0-432B-B0A5-B411C3AE8B65
P5166
Q21203053-437AE409-8416-4F5E-96B7-7C52409BB1D0Q21563367-DB8F5406-F8BE-4CBF-A94D-B18BEA961D86Q22003954-B35BC891-F680-455F-B787-2DE922C5F4C5Q22009990-8774F3AB-927F-40A5-9499-50B371A77040Q24312256-FE5629E8-09AB-4464-A342-1ACC87E226E0Q24315040-3303CE68-0F47-4550-BB8F-6F2409D11580Q24619118-1BBAA4FA-6000-45B7-8FE4-9D5179AFD9C8Q24642861-68604636-2AD2-410A-BCD0-B39941F0C516Q24671971-437FF6E2-4CE0-47D6-9DC1-8B254DAC3AA3Q24672141-9B21C34E-D411-4190-BE86-6C1DA0C017DDQ24674679-66204DB1-DC4C-4FE2-8AA7-974D4925C36DQ24681018-B1B5F2B9-4EE9-4B2C-9A5B-BD27D8B82150Q26824602-3582A079-4E6C-4FD1-961D-FBE5D7E2C0BEQ27301044-F00E35CF-F6C5-47A7-993A-11E875A5F93CQ27311419-D294940E-ED43-4E6B-871D-D6BE2A2B534DQ27330705-CE02D3E4-3312-4813-A052-961ACFA59110Q28116314-32724BAE-E267-406E-AF3B-E8507B5B71BAQ28139069-4EA5A07F-4B9C-4BB5-AD98-38453DF46BA6Q28140306-3C4746FE-ACDE-4D42-B8BC-857E3D7DC05AQ28144925-D15AD242-B44A-48C5-B92E-572BD67884F1Q28145579-3246781E-6F80-4E72-B129-DCD4637FA52FQ28193233-B65B1AED-D5FC-43C2-ABF6-BC00A3E74421Q28202625-33F88A3C-DC7B-4A5E-A5DE-5BF3C003946DQ28213823-39740E0D-7F40-4F24-B561-58F29EF8C27FQ28215312-BECE8B9C-A3BE-4653-9A4B-D05ED86B2FA3Q28216575-9531CA72-1F02-4E3A-A5A7-517FF81FCADDQ28216639-B006760E-5761-4A0A-80C9-17C09A4F0D73Q28235955-8E23E119-F485-4BC3-84AC-28A6E9834072Q28268918-494092C2-5A12-463A-9996-7BBCB27155C6Q28286312-0F47B7E5-2168-48E9-8514-8B5859F14F37Q28292538-94E94D7F-3956-4D44-92C1-B15CFE44F1DAQ28297865-D80B4690-111C-4C00-B31E-0197B58E8E7BQ28505700-CBE02D0B-72BA-4038-B2A5-CE32B0BF2788Q28511215-AA39C5C1-C0D8-40B1-8F8A-E2C4BF7F1EE7Q28512829-D6AE51BA-8922-40CD-A312-74A06961EC75Q28588813-F1F8B852-1804-4316-BF84-ED0CAC0831B8Q28593975-9C41AB6A-210A-44F1-A066-AA65C569A419Q30428177-0290B7BA-1225-4A6F-B2DE-368390C4F5A5Q30460613-12E5C2F3-7366-4B0D-9785-858AFD4D7583Q30470538-E0C476A9-75D0-413D-9261-0AD33E62B7DB
P921
description
Krankheit
@de
congenital disorder of the nervous system
@en
malformación congénital del cerebro
@es
malformation congénitale du cerveau
@fr
malformazione cerebrale caratt ...... della vescicola prosencefalica
@it
vrozená vada nervové soustavy
@cs
name
Holoprosencefalia
@es
Holoprosencefalie
@cs
Holoprosencefalie
@nl
Holoprosencephalie
@de
Holoprosenkefalia
@fi
Holoprosensefali
@tr
Holoprozencefalia
@pl
Holoprozencefália
@sk
holoproencéphalie
@fr
holoprosencefalia
@pt
type
label
Holoprosencefalia
@es
Holoprosencefalie
@cs
Holoprosencefalie
@nl
Holoprosencephalie
@de
Holoprosenkefalia
@fi
Holoprosensefali
@tr
Holoprozencefalia
@pl
Holoprozencefália
@sk
holoproencéphalie
@fr
holoprosencefalia
@pt
altLabel
Holoprosencephaly sequence (disorder)
@en
Holoprosencephaly sequence
@en
prefLabel
Holoprosencefalia
@es
Holoprosencefalie
@cs
Holoprosencefalie
@nl
Holoprosencephalie
@de
Holoprosenkefalia
@fi
Holoprosensefali
@tr
Holoprozencefalia
@pl
Holoprozencefália
@sk
holoproencéphalie
@fr
holoprosencefalia
@pt
P2888
P672
P486
P6366
P646
P672
P138
P1417
science/holoprosencephaly
P1748
P1995
P2892
P31
P373
Holoprosencephaly
P3827
holoprosencephaly
P3841
HP:0001360