Disease (OMIM:610828):
Holoprosencephaly 7
HOLOPROSENCEPHALY 7

Associated phenotypes (HPO):
id: HP:0006988
hpo_term: Alobar holoprosencephaly
chpo_term: 无脑叶畸形
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0010649
hpo_term: Flat nasal alae
chpo_term: 鼻翼扁平
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004122
hpo_term: Midline defect of the nose
chpo_term: 鼻中线缺陷
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
id: HP:0010650
hpo_term: Hypoplasia of the premaxilla
chpo_term: 前颌骨发育不良
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006870
hpo_term: Lobar holoprosencephaly
chpo_term: 脑叶性前脑无裂畸形
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005104
hpo_term: Hypoplastic nasal septum
chpo_term: 鼻中隔发育不全
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0100334
hpo_term: Unilateral cleft palate
chpo_term: 单侧腭裂
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0002507
hpo_term: Semilobar holoprosencephaly
chpo_term: 半脑叶前脑无裂畸形
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0005273
hpo_term: Absent nasal septal cartilage
chpo_term: 鼻中隔软骨缺如
id: HP:0010664
hpo_term: Fusion of the left and right thalami
chpo_term: 左右丘脑融合
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0002436
hpo_term: Occipital meningocele
chpo_term: 枕脊膜膨出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000267
hpo_term: Cranial asymmetry
chpo_term: 颅骨不对称
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶