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Term:
syndromic microphthalmia 8 (DOID:0111803)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
microcephaly +     
Prognathism +     
3p deletion syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
acheiropody  
Acrootoocular Syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Aicardi-Goutieres syndrome +   
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Amish Lethal Microcephaly  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aphalangia Syndactyly Microcephaly 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant disease +   
autosomal dominant microcephaly +   
autosomal hemophilia A 
autosomal recessive disease +   
Baetz-Greenwalt syndrome 
Baraitser Brett Piesowicz Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E1  
brachydactyly type E2  
Brachydactyly, Type A2, With Microcephaly 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
ceft palate, cardiac defects, and intellectual disabillity  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK syndrome  
Cleft Palate, Deafness, and Oligodontia 
Cohen syndrome  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital nystagmus 1  
congenital vertical talus  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis, Adelaide Type 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Digitotalar Dysmorphism 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Symphalangism +   
Dubowitz syndrome  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Eiken syndrome  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
exudative vitreoretinopathy 4  
factor XI deficiency  
Fairbank Disease 
familial adenomatous polyposis +   
familial Mediterranean fever +   
Feingold syndrome +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Fuhrmann syndrome  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Gillespie syndrome  
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Halal Syndrome 
hand-foot-genital syndrome  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypophosphatasia +   
Hypospadias-Mental Retardation Syndrome 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Jackson-Weiss syndrome  
Johnson Munson Syndrome 
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
Lambotte Syndrome 
Laurin-Sandrow syndrome  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lowry Wood Syndrome  
MacDermot Winter Syndrome 
Macrodactyly of the Foot 
Mammary-Digital-Nail Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
McCune Albright syndrome  
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Metatarsus Varus, Type I 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
MOMES Syndrome 
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Nabais Sa-de Vries Syndrome, Type 1  
Neu-Laxova syndrome 1  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Nicolaides Baraitser Syndrome  
Nijmegen Breakage Syndrome-Like Disorder  
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Patterson Stevenson Syndrome  
Pfeiffer Tietze Welte Syndrome 
PHGDH deficiency  
porencephaly +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Preaxial Polydactyly II  
primary microcephaly +   
progeria +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Rajab Syndrome  
Ray Peterson Scott Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Robinow syndrome +   
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Second Metatarsal-Metacarpal Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
septooptic dysplasia +   
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Stoll Alembik Dott Syndrome 
Stromme syndrome  
Symphalangism with Multiple Anomalies of Hands and Feet 
syndromic microphthalmia 1 +   
syndromic microphthalmia 10 
syndromic microphthalmia 11  
syndromic microphthalmia 12  
syndromic microphthalmia 13  
syndromic microphthalmia 14  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)
syndromic microphthalmia 9  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
thrombophilia due to thrombomodulin defect  
Total Anonychia with Microcephaly 
Trichodental Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Tsukahara Syndrome  
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Van Maldergem syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Webb-Dattani Syndrome  
Weill-Marchesani syndrome +   
Winship Viljoen Leary Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: MCOPS8 ;   MMEP ;   MMEP syndrome ;   Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism ;   Viljoen-Smart syndrome ;   microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome ;   syndromic microphthalmia type 8
Primary IDs: MESH:C537686
Alternate IDs: OMIM:601349
Xrefs: GARD:3693 ;   ORDO:3434
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12471201 "DO"

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