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Term:
Photosensitive Trichothiodystrophy 1 (DOID:9003485)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4)
Parent Terms Term With Siblings Child Terms
16p11.2 Deletion Syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
acrodysostosis +   
Adams-Oliver syndrome +   
ADULT syndrome  
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome 1  
Alopecia-Mental Retardation Syndrome 2 
Alopecia-Mental Retardation Syndrome 3 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
alpha thalassemia-intellectual disability syndrome type 1 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alves Castelo dos Santos Syndrome 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Anal Sphincter Dysplasia 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
anonychia congenita +   
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aplasia Cutis Congenita Intestinal Lymphangiectasia 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Arthrogryposis, Mental Retardation, and Seizures  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant mental retardation 50  
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive spinocerebellar ataxia 12  
Ayme-Gripp Syndrome  
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basan Syndrome  
Basaran Yilmaz Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Biemond Syndrome II 
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Bjornstad syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bohring Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly Type A5 Nail Dysplasia 
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
Brunner syndrome  
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
candidal paronychia 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
cardiofaciocutaneous syndrome +   
Cartwright Nelson Fryns Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Catatrichy 
Cephalin Lipidosis 
Cerebellar Ataxia Ectodermal Dysplasia 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
Cerebrocostomandibular Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Choroid Plexus Calcification with Mental Retardation 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q29 microdeletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
chronic mucocutaneous candidiasis +   
Chudley-Rozdilsky Syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Clouston syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment  
Coffin Syndrome 1 
Cohen Syndrome  
Cohen-Gibson Syndrome  
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Woolly Hair +   
Copper Deficiency, Familial Benign 
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniofaciofrontodigital Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cutis Verticis Gyrata and Mental Deficiency 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Davis Lafer Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
Dermatoosteolysis Kirghizian Type 
Dermatopathia Pigmentosa Reticularis  
Dermoodontodysplasia 
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 
dicarboxylic aminoaciduria  
Digitorenocerebral Syndrome  
dilated cardiomyopathy with woolly hair and keratoderma +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Double Nail for Fifth Toe 
Down syndrome +   
Dubowitz syndrome 
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
EAST syndrome  
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant  
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome 1  
Ectodermal Dysplasia-Syndactyly Syndrome 2 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
EEC syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermolysis Bullosa Simplex with Nail Dystrophy  
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Euhidrotic Ectodermal Dysplasia 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Feingold syndrome +   
Feingold Trainer Syndrome 
Fg Syndrome 5 
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
FLOTCH Syndrome 
focal dermal hypoplasia +   
Focal Epilepsy, with Speech Disorder and with or without Mental Retardation  
Focal Facial Dermal Dysplasia  
folliculitis +   
Fountain Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Frontonasal Dysplasia 3  
Garret Tripp Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Gillespie Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hairy Palms and Soles 
Halal Setton Wang Syndrome 
Hall Riggs Mental Retardation Syndrome 
HAREL-YOON SYNDROME  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hay Wells Syndrome Recessive Type 
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hirsutism +   
Hittner Hirsch Kreh Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hydroxylysinuria 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
Hyperphosphatasia with Mental Retardation +   
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility  
hypertrichosis +   
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypohidrotic ectodermal dysplasia +   
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation  
Hypomagnesemia, Seizures, and Mental Retardation 2  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
hypotrichosis +   
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
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 GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated cleft palate  
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Judge Misch Wright Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome  
KLEEFSTRA SYNDROME 2  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuzniecky Andermann Syndrome 
Ladda Zonana Ramer syndrome 
Lambert Syndrome 
Lelis Syndrome 
Lenz Majewski Hyperostotic Dwarfism  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Leukonychia Totalis +   
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal 
Marinesco-Sjogren syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
MEND SYNDROME  
Menke-Hennekam Syndrome 1  
Menke-Hennekam Syndrome 2   
Menkes disease +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental retardation Smith Fineman Myers type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Language Impairment and with or without Autistic Features  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Macrotia, and Mental Retardation 
Microphthalmia and Mental Deficiency 
Mirhosseini-Holmes-Walton Syndrome 
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mowat-Wilson syndrome  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome  
Naegeli Syndrome  
nail-patella syndrome +   
Nails, Ingrown 
Nakamura Osame syndrome 
Naxos Disease  
NEMO Mutation with Immunodeficiency 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 1 
nonsyndromic congenital nail disorder 10  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
Oculotrichodysplasia 
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oliver Syndrome 
Oliver-McFarlane Syndrome  
Onycholysis +   
Onychotrichodysplasia and Neutropenia 
Opitz Trigonocephaly Syndrome  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
orofacial cleft 7 +   
Osteolysis Syndrome Recessive 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Palmoplantar Keratoderma, Spastic Paralysis 
Parastremmatic Dwarfism  
paronychia 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan Syndrome 
Patel Bixler Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Perniola Krajewska Carnevale Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Photosensitive Trichothiodystrophy 2  
Photosensitive Trichothiodystrophy 3  
Pili Annulati 
Pili Multigemini 
Pili Torti +  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
Prader-Willi syndrome +   
Primary Hyperoxaluria Type 3  
Primrose Syndrome  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudoaminopterin Syndrome 
Pseudofolliculitis Barbae  
Pseudomonilethrix 
Pseudouridinuria and Mental Defect 
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
RAHMAN SYNDROME  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Reardon Wilson Cavanagh Syndrome 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinson Miller Bensimon Syndrome 
Rodrigues Blindness 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rosselli-Gulienetti Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schinzel-Giedion Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia Mental Retardation 
Scott Bryant Graham Syndrome 
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SIFRIM-HITZ-WEISS SYNDROME  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Skin Creases, Congenital Symmetric Circumferential, 1  
Skin Creases, Congenital Symmetric Circumferential, 2  
Skin Fragility-Woolly Hair Syndrome  
Smith-Kingsmore Syndrome  
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia Epilepsy Mental Retardation 
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stevenson-Carey Syndrome 
Subungual Exostoses 
Sucrosuria, Hiatus Hernia and Mental Retardation 
superficial mycosis +  
Supernumerary Der(22)t(8 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Turner type  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
TATTON-BROWN-RAHMAN SYNDROME  
Taurodontia Absent Teeth Sparse Hair 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
tinea capitis +  
tinea favosa 
tinea unguium 
Tonoki Syndrome 
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodental Syndrome 
Trichodysplasia-Xeroderma 
Trichohepatoenteric Syndrome  
Trichohepatoenteric Syndrome 2  
TRICHOMEGALY  
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trichostasis Spinulosa 
Trueb Burg Bottani Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Uncombable Hair Syndrome +   
Upton Young Syndrome 
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
WAGR syndrome +   
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Woodhouse Sakati Syndrome  
Woolly Hair, Autosomal Recessive +   
Worster Drought Syndrome  
xeroderma pigmentosum group A  
xeroderma pigmentosum group B +   
xeroderma pigmentosum group C  
xeroderma pigmentosum group D  
xeroderma pigmentosum group E  
xeroderma pigmentosum group F  
xeroderma pigmentosum group G +   
xeroderma pigmentosum variant type  
Xeroderma Pigmentosum, Autosomal Dominant, Mild 
Xeroderma Pigmentosum, Type 9 
XFE progeroid syndrome  
yellow nail syndrome +  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Yunis-Varon syndrome  
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION ;   PIBIDS syndrome ;   TRICHOTHIODYSTROPHY, PHOTOSENSITIVE ;   TTD1 ;   TTDP ;   Trichothiodystrophy, Type 1
Primary IDs: MESH:C564734
Alternate IDs: OMIM:601675 ;   RDO:0008828 ;   RDO:0013597

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