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Term:
Trichohepatoenteric Syndrome 2 (DOID:9007434)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Facies +     
hair disease +     
Infantile Diarrhea +     
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 
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bird Headed Dwarfism Montreal Type 
Bjornstad syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachytelephalangy Characteristic Facies Kallmann 
Brooks-Wisniewski-Brown syndrome 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
Camptodactyly Syndrome Guadalajara Type 2 
cardiofaciocutaneous syndrome +   
Cartwright Nelson Fryns Syndrome 
Catatrichy 
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
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  
cold-induced sweating syndrome +   
congenital diarrhea 5 with tufting enteropathy  
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 +   
Congenital Woolly Hair +   
Copper Deficiency, Familial Benign 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniomicromelic Syndrome 
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 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
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 
Dermoodontodysplasia 
Diarrhea 7  
DIARRHEA 9  
dilated cardiomyopathy with woolly hair and keratoderma +   
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 
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
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 
Fetal Akinesia Syndrome, X-Linked 
fibrochondrogenesis +   
Filippi Syndrome  
Finnish Lethal Neonatal Metabolic Syndrome  
FLOTCH Syndrome 
folliculitis +   
Fryns Macrocephaly 
Fryns Syndrome 
Geleophysic Dysplasia 1  
Geleophysic Dysplasia 2  
Geleophysic Dysplasia 3  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
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 
Hairy Palms and Soles 
Haspeslagh Fryns Muelenaere Syndrome 
hereditary spastic paraplegia 23  
Hirsutism +   
Holoprosencephaly 10 
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Hoyeraal Hreidarsson Syndrome  
hypertrichosis +   
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1  
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2  
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis +   
IMAGe syndrome  
IMAGEI Syndrome  
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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Lambotte Syndrome 
Larsen-like syndrome 
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  
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal 
Martinez Monasterio Pinheiro Syndrome 
McDonough Syndrome 
McPherson Clemens Syndrome 
Menkes disease +   
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 with Maxillary Hypoplasia with or without Brachydactyly  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
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, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
monilethrix +   
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
Naxos Disease  
Neu-Laxova syndrome 1  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Oculotrichodysplasia 
Omodysplasia 2  
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome Recessive 
Otoonychoperoneal Syndrome 
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
Photosensitive Trichothiodystrophy 1  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pili Annulati 
Pili Multigemini 
Pili Torti +  
Pituitary Hormone Deficiency, Combined, 1  
Progeroid Facial Appearance with Hand Anomalies 
Progeroid Syndrome, Neonatal 
Pseudofolliculitis Barbae  
Pseudomonilethrix 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Ray Peterson Scott Syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Roifman-Chitayat Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Seckel syndrome 4  
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
Short Stature and Locking Fingers 
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 
Skin Fragility-Woolly Hair Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
superficial mycosis +  
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Thymic-Renal-Anal-Lung Dysplasia 
tinea capitis +  
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodysplasia-Xeroderma 
Trichohepatoenteric Syndrome  
Trichohepatoenteric Syndrome 2  
TRICHOMEGALY  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichostasis Spinulosa 
Uncombable Hair Syndrome +   
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Woods Leversha Rogers Syndrome 
Woolly Hair, Autosomal Recessive +   
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: THES2
Primary IDs: OMIM:614602 ;   RDO:9000843

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