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Ontology Browser

Term:
Holoprosencephaly 10 (DOID:9008280)
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Parent Terms Term With Siblings Child Terms
Facies +     
holoprosencephaly +     
microphthalmia +     
Adams Nance Syndrome 
agnathia-otocephaly complex  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arhinia, Choanal Atresia, and Microphthalmia  
Aughton Syndrome 
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Behrens Baumann Dust Syndrome 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachytelephalangy Characteristic Facies Kallmann 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
cardiofaciocutaneous syndrome +   
cataract 40  
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Combined Pituitary Hormone Deficiency, 1  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Dubowitz syndrome 
Duker Weiss Siber syndrome 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Frontonasal Dysplasia 3  
Fryns Macrocephaly 
Fryns Syndrome 
Geleophysic Dysplasia +   
Genoa Syndrome 
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GOMBO Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary spastic paraplegia 23  
Hittner Hirsch Kreh Syndrome 
holoprosencephaly 1  
Holoprosencephaly 10 
holoprosencephaly 11  
Holoprosencephaly 12, with or without Pancreatic Agenesis  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 6 
holoprosencephaly 7  
holoprosencephaly 8 
holoprosencephaly 9  
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holoprosencephaly, Recurrent Infections, and Monocytosis 
Hypotonia, Seizures, and Precocious Puberty 
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 7  
isolated microphthalmia 8  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Microphthalmia with Coloboma +   
Isolated Microphthalmia with Corectopia 
Kahrizi syndrome  
Kaplowitz Bodurtha syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Lambotte Syndrome 
Larsen-Like Syndromes +   
Leri Pleonosteosis 
Lichtenstein Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrosomia with Lethal Microphthalmia 
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
Matthew-Wood syndrome  
McDonough Syndrome 
McPherson Clemens Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcornea Corectopia Macular Hypoplasia 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microgastria Limb Reduction Defect 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 1  
Microphthalmia, Syndromic 10 
Microphthalmia, Syndromic 11  
Microphthalmia, Syndromic 12  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 4  
Microphthalmia, Syndromic 5  
Microphthalmia, Syndromic 6  
Microphthalmia, Syndromic 7  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
Nanophthalmos 1  
Nanophthalmos 2  
Nanophthalmos 3 
Nanophthalmos 4  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nonsyndromic Holoprosencephaly 
Oculodentoosseous Dysplasia Recessive 
Oculoskeletodental Syndrome  
Omodysplasia 2  
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome Recessive 
Otoonychoperoneal Syndrome 
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
Pseudotrisomy 13 Syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Severe Growth Restriction with Distinctive Facies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Steinfeld Syndrome 
syndromic X-linked intellectual disability Turner type  
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies
Primary IDs: MESH:C567278
Alternate IDs: RDO:0015394

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.