DISEASES Neoplasms [C04] Neoplasms Hamartoma [C04.445] Hamartoma Hamartoma Syndrome, Multiple [C04.445.435] Hamartoma Syndrome, Multiple Pallister-Hall Syndrome [C04.445.622] Pallister-Hall Syndrome Tuberous Sclerosis [C04.445.810] Tuberous Sclerosis DISEASES Neoplasms [C04] Neoplasms Neoplasms by Site [C04.588] Neoplasms by Site Nervous System Neoplasms [C04.588.614] Nervous System Neoplasms Central Nervous System Neoplasms [C04.588.614.250] Central Nervous System Neoplasms Brain Neoplasms [C04.588.614.250.195] Brain Neoplasms Supratentorial Neoplasms [C04.588.614.250.195.885] Supratentorial Neoplasms Hypothalamic Neoplasms [C04.588.614.250.195.885.500] Hypothalamic Neoplasms Pallister-Hall Syndrome [C04.588.614.250.195.885.500.299] Pallister-Hall Syndrome Pituitary Neoplasms [C04.588.614.250.195.885.500.600] Pituitary Neoplasms DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Limb Deformities, Congenital [C05.660.585] Limb Deformities, Congenital Polydactyly [C05.660.585.600] Polydactyly Pallister-Hall Syndrome [C05.660.585.600.374] Pallister-Hall Syndrome Short Rib-Polydactyly Syndrome [C05.660.585.600.750] Short Rib-Polydactyly Syndrome DISEASES Nervous System Diseases [C10] Nervous System Diseases Central Nervous System Diseases [C10.228] Central Nervous System Diseases Brain Diseases [C10.228.140] Brain Diseases Brain Neoplasms [C10.228.140.211] Brain Neoplasms Supratentorial Neoplasms [C10.228.140.211.885] Supratentorial Neoplasms Hypothalamic Neoplasms [C10.228.140.211.885.500] Hypothalamic Neoplasms Pallister-Hall Syndrome [C10.228.140.211.885.500.299] Pallister-Hall Syndrome Pituitary Neoplasms [C10.228.140.211.885.500.600] Pituitary Neoplasms DISEASES Nervous System Diseases [C10] Nervous System Diseases Central Nervous System Diseases [C10.228] Central Nervous System Diseases Brain Diseases [C10.228.140] Brain Diseases Hypothalamic Diseases [C10.228.140.617] Hypothalamic Diseases Hypothalamic Neoplasms [C10.228.140.617.477] Hypothalamic Neoplasms Pallister-Hall Syndrome [C10.228.140.617.477.299] Pallister-Hall Syndrome Pituitary Neoplasms [C10.228.140.617.477.600] Pituitary Neoplasms DISEASES Nervous System Diseases [C10] Nervous System Diseases Nervous System Neoplasms [C10.551] Nervous System Neoplasms Central Nervous System Neoplasms [C10.551.240] Central Nervous System Neoplasms Brain Neoplasms [C10.551.240.250] Brain Neoplasms Supratentorial Neoplasms [C10.551.240.250.700] Supratentorial Neoplasms Hypothalamic Neoplasms [C10.551.240.250.700.500] Hypothalamic Neoplasms Pallister-Hall Syndrome [C10.551.240.250.700.500.249] Pallister-Hall Syndrome Pituitary Neoplasms [C10.551.240.250.700.500.500] Pituitary Neoplasms DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Limb Deformities, Congenital [C16.131.621.585] Limb Deformities, Congenital Polydactyly [C16.131.621.585.600] Polydactyly Pallister-Hall Syndrome [C16.131.621.585.600.374] Pallister-Hall Syndrome Short Rib-Polydactyly Syndrome [C16.131.621.585.600.750] Short Rib-Polydactyly Syndrome

Pallister-Hall Syndrome - Conceito preferido

Identificador do conceito	M0511704
Nota de escopo	A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.
Termo preferido	Pallister-Hall Syndrome
Termo(s) alternativo(s)	CAVE Complex CAVE Complices Cerebroacrovisceral Early Lethality Complex Complex, CAVE Complices, CAVE Hall Pallister Syndrome Hall-Pallister Syndrome Hamartoblastoma Syndrome, Hypothalamic Hamartoblastoma Syndromes, Hypothalamic Hypothalamic Hamartoblastoma Syndrome Hypothalamic Hamartoblastoma Syndromes Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly Pallister Hall Syndrome Syndrome, Hall-Pallister Syndrome, Hypothalamic Hamartoblastoma Syndrome, Pallister-Hall Syndromes, Hypothalamic Hamartoblastoma