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Ontology Browser

Term:
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (DOID:9000898)
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Parent Terms Term With Siblings Child Terms
Adams Nance Syndrome 
Alopecia, Hypogonadism, Extrapyramidal Disorder  
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
alopecia-mental retardation syndrome 3 
alopecia-mental retardation syndrome 4  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Impaired Intellectual Development, and Seizures  
autosomal dominant intellectual developmental disorder 6  
Baraitser Rodeck Garner syndrome 
Bassoe Syndrome 
Biemond Syndrome II 
Borjeson-Forssman-Lehmann syndrome  
Boucher-Neuhauser syndrome  
Cantalamessa Baldini Ambrosi Syndrome 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Chang Davidson Carlson Syndrome 
chromosome 15q13.3 microdeletion syndrome  
Chudley-Rozdilsky Syndrome 
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
De Sanctis-Cacchione syndrome  
Deafness-Hypogonadism Syndrome 
developmental delay and seizures with or without movement abnormalities  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
eunuchism +   
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
gonadal dysgenesis +   
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hypogonadism and Testicular Atrophy  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism +   
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypomyelinating leukodystrophy 7  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosis and Male Hypogonadism 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Isolated Mineralocorticoid Deficiency  
Johnson Neuroectodermal Syndrome 
Klinefelter syndrome  
Lubinsky Syndrome 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Martsolf Syndrome +   
MEHMO syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Moebius Axonal Neuropathy Hypogonadism 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
myoclonic-atonic epilepsy  
Myopathy, Cataract, Hypogonadism Syndrome 
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Occipital Cortical Malformations  
optic atrophy 10  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Progressive External Ophthalmoplegia with Hypogonadism 
PSAT deficiency  
Qazi Markouizos syndrome 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Rud Syndrome 
Scholte Syndrome 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Sexual Infantilism  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Slti Salem Syndrome 
Smith-Kingsmore Syndrome  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Cabezas type  
Tranebjaerg Svejgaard syndrome 
Vasquez Hurst Sotos Syndrome 
Warburg micro syndrome +   
Weinstein Kliman Scully Syndrome 
White-Sutton syndrome  
Woodhouse-Sakati syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
Young Hughes Syndrome 

Synonyms
Primary IDs: MESH:C563370
Alternate IDs: OMIM:601217

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