{"Name":"Large congenital melanocytic nevus","DiseaseID__c":"GARD:0002469","id":2469,"encodedName":"large-congenital-melanocytic-nevus","IsDeleted":false,"Disease_Name_Full__c":"Large congenital melanocytic nevus","Xref_IDs__c":"254815002; 398696001; C1842036; C3944; C4234; DOID:0111359; MEDGEN:330752; MONDO:0044792; OMIM:137550; ORPHA:626","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0044792","Disease_Description__c":"A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.","GARD_Name__c":"Large congenital melanocytic nevus","GARD_Synonym__c":"bathing trunk nevus; cmns; congenital giant melanocytic nevus; congenital giant pigmented nevus; congenital melanocytic nevi; congenital melanocytic nevus; congenital melanocytic nevus of skin; congenital melanocytic nevus of the skin; congenital nevus of skin; congenital nevus of the skin; congenital pigmented melanocytic nevus; congenital pigmented nevus; congenital pigmented nevus of skin; congenital pigmented nevus of the skin; congenital pigmented skin nevus; congenital skin nevus; gcmn - giant congenital melanocytic nevus; giant congenital melanocytic nevus; giant congenital nevus; giant hairy nevus; giant pigmented hairy nevus; giant pigmented mole; giant pigmented nevus; giant pigmented nevus of skin; giant pigmented nevus of the skin; gmn; intermediate and giant congenital nevus; large congenital pigmented melanocytic nevus of skin; lcmn; lcmn - large congenital melanocytic nevus; melanocytic nevus syndrome, congenital, somatic; pigmented moles; spitz nevus or nevus spilus, somatic","Curated_Disease_Description_Source__c":"GARD:0002469","Curated_Disease_Description__c":"Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of skin cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:626","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044792","ORPHANET_ID__c":"ORPHA:626","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo melanocítico congénito grande/gigante","Spanish_Description_Source__c":"ORPHA:626","Spanish_Description__c":"Es un hamartoma cutáneo poco frecuente caracterizado por al menos una lesión cutánea pigmentada, presente al nacimiento, de más de 20 cm (nevo melanocítico congénito de gran tamaño o grande; NMC grande) o 40 cm (NMC gigante) de diámetro proyectado al tamaño en un paciente adulto. La lesión primaria está formada por melanocitos mutados y, a menudo, por una dermis o unos anexos epidérmicos localmente desorganizados. Es una lesión con un riesgo elevado de transformación maligna a melanoma o, menos frecuentemente, a otras neoplasias cutáneas o del sistema nervioso central.","Spanish_Disease_Name__c":"nevo melanocítico congénito grande/gigante","Spanish_GARD_Synonym__c":"lgcmn; nevo pigmentado congénito grande/gigante; síndrome de nmc grande/gigante","Category_Linearization__c":"ORPHA:89826","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":"Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of skin cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).","Curated_Disease_Description_Source__c":"GARD:0002469","GARD_Synonym__c":"bathing trunk nevus; cmns; congenital giant melanocytic nevus; congenital giant pigmented nevus; congenital melanocytic nevi; congenital melanocytic nevus; congenital melanocytic nevus of skin; congenital melanocytic nevus of the skin; congenital nevus of skin; congenital nevus of the skin; congenital pigmented melanocytic nevus; congenital pigmented nevus; congenital pigmented nevus of skin; congenital pigmented nevus of the skin; congenital pigmented skin nevus; congenital skin nevus; gcmn - giant congenital melanocytic nevus; giant congenital melanocytic nevus; giant congenital nevus; giant hairy nevus; giant pigmented hairy nevus; giant pigmented mole; giant pigmented nevus; giant pigmented nevus of skin; giant pigmented nevus of the skin; gmn; intermediate and giant congenital nevus; large congenital pigmented melanocytic nevus of skin; lcmn; lcmn - large congenital melanocytic nevus; melanocytic nevus syndrome, congenital, somatic; pigmented moles; spitz nevus or nevus spilus, somatic","Name":"Large congenital melanocytic nevus","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Melanoma Research Foundation","Website__c":"https://www.melanoma.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"},{"Account_Name__c":"Nevus Outreach, Inc.","Website__c":"https://www.nevus.org"},{"Account_Name__c":"The Nevus Network","Website__c":"https://www.nevusnetwork.org/"},{"Account_Name__c":"Naevus Global","Website__c":"https://naevusglobal.nevusnetwerk.nl/"},{"Account_Name__c":"Caring Matters Now","Website__c":"https://www.caringmattersnow.co.uk/"},{"Account_Name__c":"Naevus International","Website__c":"https://www.naevusinternational.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:626"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:626"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002469","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254815002","Source__c":"MONDO:0044792","Xref__c":"254815002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111359","Source__c":"MONDO:0044792","Xref__c":"DOID:0111359"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3944","Source__c":"MONDO:0044792","Xref__c":"C3944"},{"URL__c":"https://www.omim.org/entry/137550","Source__c":"C1842036; MONDO:0044792; ORPHA:626","Xref__c":"OMIM:137550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398696001","Source__c":"MONDO:0044792","Xref__c":"398696001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330752","Source__c":"C1842036","Xref__c":"MEDGEN:330752"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4234","Source__c":"C1842036; MONDO:0044792","Xref__c":"C4234"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842036","Source__c":"C1842036","Xref__c":"C1842036"},{"URL__c":"https://www.orpha.net/en/disease/detail/626","Source__c":"C1842036; MONDO:0044792; ORPHA:626","Xref__c":"ORPHA:626"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044792","Source__c":"GARD:0002469","Xref__c":"MONDO:0044792"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=10291008","Source__c":"C1842036","Xref__c":"10291008"},{"URL__c":"https://medlineplus.gov/genetics/condition/giant-congenital-melanocytic-nevus","Source__c":"GARD:0002469","Xref__c":"https://medlineplus.gov/genetics/condition/giant-congenital-melanocytic-nevus"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1260467009","Source__c":"C1842036","Xref__c":"1260467009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005600","Source__c":"C1842036","Xref__c":"HP:0005600"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","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:626","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005600","HPO_Synonym__c":"Giant pigmented hairy nevus; Giant pigmented mole; Giant pigmented nevus","HPO_Name__c":"Congenital giant melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004912","HPO_Name__c":"Hypophosphatemic rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Premature development of the breasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010314","HPO_Synonym__c":"Premature breast development","HPO_Name__c":"Premature thelarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:626","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; 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