{ "disease_id": "DOID:0060644", "recommended_name": { "id": "DOID:0060644", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060644", "name": "chondrodysplasia-pseudohermaphroditism syndrome", "description": "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia." }, "synonyms": [ { "id": "DOID:0060644", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060644", "name": "chondrodysplasia-disorder of sex development syndrome", "description": "" }, { "id": "DOID:0060644", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060644", "name": "Nivelon-Nivelon-Mabille syndrome", "description": "" }, { "id": "MONDO:0010814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010814", "name": "chondrodysplasia-pseudohermaphroditism syndrome", "description": "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." }, { "id": "MONDO:0010814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010814", "name": "Nivelon-Nivelon-Mabille syndrome", "description": "" }, { "id": "MONDO:0010814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010814", "name": "chondrodysplasia-disorder of sex development syndrome", "description": "" }, { "id": "MONDO:0010814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010814", "name": "chondrodysplasia-pseudohermaphroditism syndrome", "description": "" }, { "id": "MIM:600092", "resource": "MIM", "url": "https://www.omim.org/entry/600092", "name": "Nivelon-Nivelon-Mabille syndrome", "description": "Nivelon-Nivelon-Mabille syndrome" } ], "children": [], "id_list": [ "DOID:0060644" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060644", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060644", "categories": [] }, { "id": "MONDO:0010814", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010814", "categories": [] }, { "id": "MIM:600092", "database": "MIM", "url": "https://www.omim.org/entry/600092", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F8W2J4-1", "uniprot_ac": "F8W2J4", "uniprot_id": "F8W2J4_DANRE", "refseq_ac": "NP_001108362", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein-cysteine N-palmitoyltransferase HHAT", "type": "synonym" }, { "name": "protein-cysteine N-palmitoyltransferase HHAT", "type": "synonym" } ], "gene_names": [ { "name": "hhat", "type": "recommended" }, { "name": "hhat", "type": "synonym" } ], "record_id": "F8W2J4-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "Q8BMT9-1", "uniprot_ac": "Q8BMT9", "uniprot_id": "HHAT_MOUSE", "refseq_ac": "NP_659130", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein-cysteine N-palmitoyltransferase HHAT", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "Hedgehog acyltransferase", "type": "synonym" }, { "name": "Skinny hedgehog protein", "type": "synonym" }, { "name": "protein-cysteine N-palmitoyltransferase HHAT", "type": "synonym" }, { "name": "skinny hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Hhat", "type": "recommended" }, { "name": "2810432O22Rik", "type": "synonym" }, { "name": "AP-2CRE", "type": "synonym" }, { "name": "Hhat", "type": "synonym" }, { "name": "Skn", "type": "synonym" }, { "name": "Tg(TFAP2A-cre)1Will", "type": "synonym" } ], "record_id": "Q8BMT9-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "Q5VTY9-1", "uniprot_ac": "Q5VTY9", "uniprot_id": "HHAT_HUMAN", "refseq_ac": "NP_001116306", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein-cysteine N-palmitoyltransferase HHAT", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "Hedgehog acyltransferase", "type": "synonym" }, { "name": "MART-2", "type": "synonym" }, { "name": "Melanoma antigen recognized by T-cells 2", "type": "synonym" }, { "name": "Skinny hedgehog protein 1", "type": "synonym" }, { "name": "melanoma antigen recognized by T-cells 2", "type": "synonym" }, { "name": "protein-cysteine N-palmitoyltransferase HHAT isoform 1", "type": "synonym" }, { "name": "protein-cysteine N-palmitoyltransferase HHAT", "type": "synonym" }, { "name": "skinny hedgehog protein 1", "type": "synonym" } ], "gene_names": [ { "name": "HHAT", "type": "recommended" }, { "name": "HHAT", "type": "synonym" }, { "name": "MART2", "type": "synonym" }, { "name": "NNMS", "type": "synonym" }, { "name": "SKI1", "type": "synonym" }, { "name": "Skn", "type": "synonym" } ], "record_id": "Q5VTY9-1", "evidence": [ { "id": "600092", "database": "MIM", "url": "https://www.omim.org/entry/600092" }, { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "P53154-1", "uniprot_ac": "P53154", "uniprot_id": "GUP1_YEAST", "refseq_ac": "NP_011431", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Membrane-bound O-acyltransferase GUP1", "type": "recommended" }, { "name": "Glycerol uptake protein 1", "type": "synonym" }, { "name": "O-acyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "GUP1", "type": "recommended" }, { "name": "GUP1", "type": "synonym" } ], "record_id": "P53154-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "Q08929-1", "uniprot_ac": "Q08929", "uniprot_id": "GUP2_YEAST", "refseq_ac": "NP_015135", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Membrane-bound O-acyltransferase GUP2", "type": "recommended" }, { "name": "Glycerol uptake protein 2", "type": "synonym" }, { "name": "putative O-acyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "GUP2", "type": "recommended" }, { "name": "GUP2", "type": "synonym" } ], "record_id": "Q08929-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "A0A8I6GIY5-1", "uniprot_ac": "A0A8I6GIY5", "uniprot_id": "A0A8I6GIY5_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hedgehog acyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Hhat", "type": "recommended" } ], "record_id": "A0A8I6GIY5-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] }, { "uniprot_canonical_ac": "Q9VZU2-1", "uniprot_ac": "Q9VZU2", "uniprot_id": "HHAT_DROME", "refseq_ac": "NP_523898", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein-cysteine N-palmitoyltransferase Rasp", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "CG11495-PA", "type": "synonym" }, { "name": "Protein central missing", "type": "synonym" }, { "name": "Protein sightless", "type": "synonym" }, { "name": "Protein skinny hedgehog", "type": "synonym" }, { "name": "central missing", "type": "synonym" }, { "name": "lethal(3)63Bg", "type": "synonym" }, { "name": "lethal(3)SG3", "type": "synonym" }, { "name": "rasp-PA", "type": "synonym" }, { "name": "rasp", "type": "synonym" }, { "name": "sightless", "type": "synonym" }, { "name": "skinny hedgehog", "type": "synonym" } ], "gene_names": [ { "name": "rasp", "type": "recommended" }, { "name": "7F21", "type": "synonym" }, { "name": "CG11495", "type": "synonym" }, { "name": "Dmel\\CG11495", "type": "synonym" }, { "name": "RASP", "type": "synonym" }, { "name": "Rasp", "type": "synonym" }, { "name": "Ski", "type": "synonym" }, { "name": "cmn", "type": "synonym" }, { "name": "cnm", "type": "synonym" }, { "name": "l(3)63Bg", "type": "synonym" }, { "name": "l(3)M47", "type": "synonym" }, { "name": "l(3)SG3", "type": "synonym" }, { "name": "l(3)m47", "type": "synonym" }, { "name": "rasp", "type": "synonym" }, { "name": "rsp", "type": "synonym" }, { "name": "sig/ski", "type": "synonym" }, { "name": "sit", "type": "synonym" }, { "name": "ski/sit", "type": "synonym" }, { "name": "ski", "type": "synonym" } ], "record_id": "Q9VZU2-1", "evidence": [ { "id": "0060644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060644" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060644" }