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Term:
orofaciodigital syndrome IX (DOID:0060382)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Absence of Fingerprints  
Actinic Prurigo  
Albinism +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Collagenosis, Familial Reactive Perforating 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Gerodermia Osteodysplastica  
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
ichthyosis vulgaris +   
Isolated Osteopoikilosis 
Joubert syndrome with orofaciodigital defect  
Juberg Hayward Syndrome 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Oculotrichodysplasia 
Orofaciodigital Syndrome 12 
Orofaciodigital Syndrome 13 
Orofaciodigital Syndrome 2 
orofaciodigital syndrome I  
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)
orofaciodigital syndrome V  
orofaciodigital syndrome VII 
orofaciodigital syndrome VIII 
orofaciodigital syndrome X 
orofaciodigital syndrome XI 
Orofaciodigital Syndrome XIV  
Orofaciodigital Syndrome XV  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
OROFACIODIGITAL SYNDROME XVIII  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
porokeratosis +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
pseudoxanthoma elasticum +   
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Rothmund-Thomson syndrome +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Stiff Skin Syndrome  
Storm Syndrome 
Systemic Hyalinosis  
Trichothiodystrophy Syndromes +   
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: OFD9 ;   OFDS IX ;   Oral Facial Digital Syndrome, Type IX ;   Oral-facial-digital syndrome with retinal abnormalities ;   Orofaciodigital Syndrome, Type 9 ;   Orofaciodigital syndrome 9 ;   oral-facial-digital syndrome 9 ;   orofaciodigital syndrome with retinal abnormalities
Primary IDs: MESH:C557818
Alternate IDs: OMIM:258865 ;   RDO:0009982
Xrefs: GARD:10520 ;   ORDO:141007
Definition Sources: https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9, https://www.ncbi.nlm.nih.gov/pubmed/18000902

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