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Term:
autosomal recessive congenital ichthyosis (DOID:0060655)
Annotations: Rat: (31) Mouse: (31) Human: (32) Chinchilla: (30) Bonobo: (31) Dog: (31) Squirrel: (31)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
3-M syndrome +   
3MC syndrome +   
ABCD syndrome  
Absence of Fingerprints  
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
Acquired Ichthyosis 
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
Actinic Prurigo  
adult spinal muscular atrophy  
agenesis of the corpus callosum with peripheral neuropathy  
Albinism +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Annular Erythema 
Antley-Bixler syndrome +   
ARC syndrome  
arrhythmogenic right ventricular dysplasia 11  
arterial tortuosity syndrome  
asphyxiating thoracic dystrophy +   
Athabaskan brainstem dysgenesis syndrome  
atopic dermatitis +   
atrichia with papular lesions  
Atrophia Maculosa Varioliformis Cutis, Familial 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal recessive Alport syndrome  
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal spinal muscular atrophy 1  
autosomal recessive distal spinal muscular atrophy 2  
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive early-onset Parkinson's disease 15  
autosomal recessive early-onset Parkinson's disease 23  
autosomal recessive early-onset Parkinson's disease 6  
autosomal recessive early-onset Parkinson's disease 7  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive juvenile Parkinson's disease 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive Parkinson's disease 14  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive type IV Ehlers-Danlos syndrome 
Bardet-Biedl syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Bowen-Conradi syndrome  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
Canavan disease  
cartilage-hair hypoplasia  
Cataract and Congenital Ichthyosis 
CD3epsilon deficiency 
CD3gamma deficiency 
CD40 deficiency  
CEDNIK syndrome  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Chediak-Higashi syndrome +   
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
cold-induced sweating syndrome +   
Collagenosis, Familial Reactive Perforating 
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Ichthyosis with Trichothiodystrophy +   
craniolenticulosutural dysplasia  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
cystic fibrosis +   
Deal Barratt Dillon Syndrome 
dilated cardiomyopathy with woolly hair and keratoderma +   
Donnai-Barrow syndrome  
Donohue syndrome +   
Dowling-Degos disease +   
Dykes Markes Harper Syndrome 
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
epidermodysplasia verruciformis +   
epidermolysis bullosa +   
epidermolysis bullosa simplex with muscular dystrophy  
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
familial erythrocytosis 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fibular hypoplasia and complex brachydactyly  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Fraser syndrome +   
Galloway-Mowat syndrome +   
gangliosidosis +   
Gerodermia Osteodysplastica  
Griscelli syndrome +   
Grover's Disease 
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
HID Syndrome  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
hydrolethalus syndrome +   
hypertelorism, microtia, facial clefting syndrome 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Ichthyosis Prematurity Syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Isolated Osteopoikilosis 
Jagell Holmgren Hofer Syndrome 
JMP syndrome  
Johanson-Blizzard syndrome  
Juvenile Spring Eruption of Ears 
Kahrizi syndrome  
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Koone Rizzo Elias Syndrome 
Laron syndrome +   
Laurence-Moon syndrome  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Marinesco-Sjogren syndrome  
Meier-Gorlin syndrome +   
microphthalmia with limb anomalies  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
monilethrix +   
Muir-Torre syndrome  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Nasu-Hakola disease  
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
Netherton syndrome  
Neu-Laxova syndrome 1  
Nijmegen breakage syndrome +   
Nisch syndrome  
nonphotosensitive trichothiodystrophy +   
oculocutaneous albinism +   
Oculotrichodysplasia 
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
osteoporosis-pseudoglioma syndrome  
Osteosclerosis with Ichthyosis and Fractures 
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Pendred syndrome  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
PHARC syndrome  
Pierson syndrome  
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2  
porokeratosis +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
progeria +   
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
prothrombin deficiency +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
rapadilino syndrome  
Reticulate Pigmentary Disorder, with Systemic Manifestations  
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Roberts syndrome  
Rothmund-Thomson syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
SC phocomelia syndrome  
Schwartz-Jampel syndrome 1  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Sotos syndrome +   
spermatogenic failure 9  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type 
Stiff Skin Syndrome  
Storm Syndrome 
Stormorken syndrome  
Systemic Hyalinosis  
temtamy preaxial brachydactyly syndrome  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Trichodysplasia-Xeroderma 
Trichothiodystrophy Syndromes +   
trimethylaminuria  
triple-A syndrome  
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Vici syndrome  
Vohwinkel Syndrome, Variant Form  
Warburg micro syndrome +   
Werner syndrome +   
Wolcott-Rallison syndrome  
X-linked ichthyosis +   
xeroderma of eyelid 
xeroderma pigmentosum +   
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: ARCI ;   alligator skin ;   congenital ichthyosiform erythroderma ;   congenital ichthyosiform erythroderma, dry type ;   congenital ichthyosiform erythroderma, wet type ;   congenital ichthyosiform erythrodermas ;   congenital non bullous ichthyosiform erythroderma ;   congenital nonbullous ichthyosiform erythroderma ;   ichthyosiform erythroderma ;   lamellar ichthyose ;   lamellar ichthyoses ;   lamellar ichthyosis ;   nonbullous congenital lamellar ichthyosis ;   nonbullous erythroderma ichthyosiforme
Related Synonyms: Lamellar desquamation of the newborn
Primary IDs: MESH:D016113
Alternate IDs: DOID:1699 ;   RDO:0002179 ;   RDO:9003610
Xrefs: OMIM:PS242300 ;   ORDO:281097
Definition Sources: https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, https://www.ncbi.nlm.nih.gov/books/NBK1420/, https://www.ncbi.nlm.nih.gov/pubmed/20643494

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