{"Name":"Keratitis ichthyosis and deafness syndrome","DiseaseID__c":"GARD:0003113","id":3113,"encodedName":"keratitis-ichthyosis-and-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Keratitis ichthyosis and deafness syndrome","Xref_IDs__c":"2625009; C3665333; C536168; MEDGEN:777082; MONDO:0018781; OMIMPS:148210; ORPHA:477","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018781","Disease_Description__c":"A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.","GARD_Name__c":"Keratitis ichthyosis and deafness syndrome","GARD_Synonym__c":"ichthyosis hystrix rheydt type; keratitis ichthyosis deafness syndrome; keratitis-ichthyosis-deafness syndrome; keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome; keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome; keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome; kid syndrome; kid/hid syndrome; kids - keratitis ichthyosis and deafness syndrome; senter syndrome","Curated_Disease_Description_Source__c":"GARD:0003113","Curated_Disease_Description__c":"Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:477","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018781","ORPHANET_ID__c":"ORPHA:477","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome kid","Spanish_Description_Source__c":"ORPHA:477","Spanish_Description__c":"Es una enfermedad ectodérmica congénita poco frecuente caracterizada por una queratitis vascularizante, lesiones cutáneas hiperqueratósicas y sordera.","Spanish_Disease_Name__c":"síndrome kid","Spanish_GARD_Synonym__c":"ictiosis hystrix tipo rheydt; síndrome de queratitis-ictiosis-hipoacusia / ictiosis similar a hystrix-hipoacusia; síndrome de queratitis-ictiosis-sordera / ictiosis similar a hystrix-sordera; síndrome de senter; síndrome kid/hid","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.","Curated_Disease_Description_Source__c":"GARD:0003113","GARD_Synonym__c":"ichthyosis hystrix rheydt type; keratitis ichthyosis deafness syndrome; keratitis-ichthyosis-deafness syndrome; keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome; keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome; keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome; kid syndrome; kid/hid syndrome; kids - keratitis ichthyosis and deafness syndrome; senter syndrome","Name":"Keratitis ichthyosis and deafness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:477"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265336"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003113","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/477","Source__c":"C3665333; MONDO:0018781","Xref__c":"ORPHA:477"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS148210","Source__c":"MONDO:0018781","Xref__c":"OMIMPS:148210"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2625009","Source__c":"MONDO:0018781","Xref__c":"2625009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536168","Source__c":"MONDO:0018781","Xref__c":"C536168"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3665333","Source__c":"C3665333","Xref__c":"C3665333"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777082","Source__c":"C3665333","Xref__c":"MEDGEN:777082"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018781","Source__c":"GARD:0003113","Xref__c":"MONDO:0018781"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239059004","Source__c":"C3665333","Xref__c":"239059004"},{"URL__c":"https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome","Source__c":"GARD:0003113","Xref__c":"https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000230","HPO_Synonym__c":"Gingival inflammation; Inflamed gums; Red and swollen gums","HPO_Name__c":"Gingivitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ichthyosiform abnormality of the skin with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007431","HPO_Synonym__c":"Congenital ichthyosis; Ichthyosis, congenital","HPO_Name__c":"Congenital ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005328","HPO_Synonym__c":"Aged facial appearance; Premature aged appearance; Prematurely aged face; Prematurely aged facial appearance; Wizened face","HPO_Name__c":"Progeroid facial appearance","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100838","HPO_Name__c":"Recurrent cutaneous abscess formation","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the lacrimal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008038","HPO_Synonym__c":"Absent/underdeveloped lacrimal glands; Absent/underdeveloped tear glands","HPO_Name__c":"Aplastic/hypoplastic lacrimal glands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001805","HPO_Synonym__c":"Dystrophic thickened nails; Onychogryposis; Thick nail; Thickened nails","HPO_Name__c":"Onychogryphosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002673","HPO_Synonym__c":"Valgus hip","HPO_Name__c":"Coxa valga","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008625","HPO_Synonym__c":"Severe sensorineural deafness; Severe sensorineural hearing loss","HPO_Name__c":"Severe sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011859","HPO_Name__c":"Punctate keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003065","HPO_Synonym__c":"Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap","HPO_Name__c":"Patellar hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011370","HPO_Name__c":"Recurrent cutaneous fungal infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005401","HPO_Synonym__c":"Frequent candida infections","HPO_Name__c":"Recurrent candida infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000399","HPO_Synonym__c":"Deafness, sensorineural, prelingual; Prelingual sensorineural deafness","HPO_Name__c":"Prelingual sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Delayed maturation and calcification of the pubic bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008788","HPO_Synonym__c":"Absent pubic ossification in infancy","HPO_Name__c":"Delayed pubic bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008138","HPO_Synonym__c":"Equinus deformity of the calcaneus; Hindfoot equinus","HPO_Name__c":"Equinus calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100648","HPO_Name__c":"Neoplasm of the tongue","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign tumor originating from the outer root sheath of the hair follicle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012844","HPO_Synonym__c":"Tricholemmoma","HPO_Name__c":"Trichilemmoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of inflammation of the lips involving one or both of the corners of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030318","HPO_Synonym__c":"Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth","HPO_Name__c":"Angular cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031250","HPO_Name__c":"Lip fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040154","HPO_Synonym__c":"Hidradenitis suppurativa; Pyoderma fistulans significa; Smoker's boils; Verneuil's disease","HPO_Name__c":"Acne inversa","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025084","HPO_Synonym__c":"Follicular pustule; Hair follicle inflammation","HPO_Name__c":"Folliculitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025610","HPO_Synonym__c":"Meibomian gland dysfunction","HPO_Name__c":"Posterior blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Otolaryngology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Ichthyosis","Ectodermal dysplasia"]},"synonyms":["ichthyosis hystrix rheydt type"," keratitis ichthyosis deafness syndrome"," keratitis-ichthyosis-deafness syndrome"," keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome"," keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome"," keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome"," kid syndrome"," kid/hid syndrome"," kids - keratitis ichthyosis and deafness syndrome"," senter syndrome"]}