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T-cell immunodeficiency, congenital alopecia, and nail dystrophy (DOID:0060769)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
alopecia +     
nail disease +     
adenosine deaminase deficiency  
Al Gazali Hirschsprung Syndrome 
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder 
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 
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
anonychia congenita +   
atrichia with papular lesions  
Basaran Yilmaz Syndrome  
Brachydactyly Type A5 Nail Dysplasia 
Bullous Dystrophy, Hereditary Macular Type 
candidal paronychia 
Cataract, Alopecia, Sclerodactyly 
CD3delta deficiency 
CD3epsilon deficiency 
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
Central Centrifugal Cicatricial Alopecia 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
chronic mucocutaneous candidiasis +   
Combined Cellular and Humoral Immune Defects with Granulomas  
Congenital Alopecia X-Linked 
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
coronin-1A deficiency  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Dermatopathia Pigmentosa Reticularis  
Double Nail for Fifth Toe 
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 
Epidermolysis Bullosa Simplex with Nail Dystrophy  
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Familial Focal Alopecia 
FLOTCH Syndrome 
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Frontonasal Dysplasia 2  
Garret Tripp Syndrome 
Glomerulonephritis with Sparse Hair and Telangiectases  
Gomez Lopez Hernandez Syndrome 
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
HLA Class 1 Deficiency 
Hooft Disease 
Hypergonadotropic Hypogonadism And Partial Alopecia 
hypotrichosis 7  
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1  
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2  
Immunodeficiency 48  
interleukin-7 receptor alpha deficiency 
Jagell Holmgren Hofer Syndrome 
janus kinase-3 deficiency  
Johnson Neuroectodermal Syndrome 
Judge Misch Wright Syndrome 
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 
Kuster Majewski Hammerstein Syndrome 
Leukonychia Totalis +   
Loose Anagen Hair Syndrome +   
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
mandibulofacial dysostosis with alopecia  
MHC class I deficiency  
MHC class II deficiency  
Microcephaly Sparse Hair Mental Retardation Seizures 
Moloney Syndrome 
nail-patella syndrome +   
Nails, Ingrown 
Nisch syndrome  
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  
Odontomicronychial Dysplasia 
Omenn syndrome  
Onycholysis +   
pachyonychia congenita +   
Palmoplantar Keratoderma, Spastic Paralysis 
PARC Syndrome 
Patel Bixler Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Perniola Krajewska Carnevale Syndrome 
Photosensitive Trichothiodystrophy 1  
recombinase activating gene 1 deficiency 
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
Satoyoshi Syndrome 
Scholte Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
Slti Salem Syndrome 
Subungual Exostoses 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
telogen effluvium 
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
tinea favosa 
tinea unguium 
Trichoodontoonychial Dysplasia 
Urban Schosser Spohn Syndrome 
Woodhouse Sakati Syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
X-linked severe combined immunodeficiency  
yellow nail syndrome +  

Exact Synonyms: Pignata Guarino syndrome ;   alymphoid cystic thymic dysgenesis ;   congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency ;   severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome ;   winged helix deficiency
Primary IDs: MESH:C536781
Alternate IDs: OMIM:601705 ;   RDO:0002469
Xrefs: ORDO:169095
Definition Sources: https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, https://www.ncbi.nlm.nih.gov/pubmed/10206641, https://www.ncbi.nlm.nih.gov/pubmed/8911612

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