1 101800 ACRODYSOSTOSIS nevi|C0027960 pigmented nevi|C0027962 2 102200 ACROMEGALY SOMATOTROPHINOMA, FAMILIAL, INCLUDED pituitary adenoma|8272/0 adenoma|C0001430 3 102660 ADAMANTINOMA OF LONG BONES adamantinoma|9310/0 adamantinoma of long bones|C0334556 4 103200 ADIPOSIS DOLOROSA DERCUM DISEASE lipomas|C0023798 5 103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I FH I ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM GSH GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM GRA ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME adrenocortical adenomas|C0206667 adenomas|C0001430 6 104170 ALPHA-GALACTOSIDASE B GALB N-ACETYL-ALPHA-D-GALACTOSAMINIDASE NAGA LYSOSOMAL ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, INCLUDED SCHINDLER DISEASE, INCLUDED NEUROAXONAL DYSTROPHY, SCHINDLER TYPE, INCLUDED KANZAKI DISEASE, INCLUDED angiokeratoma|C0002985 7 104600 AMENORRHEA-GALACTORRHEA SYNDROME pituitary adenoma|8272/0 adenoma|C0001430 8 105580 ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED squamous carcinoma|C0007137 9 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III CDAN3 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS ERYTHRORETICULOSIS, HEREDITARY BENIGN, INCLUDED monoclonal gammopathy|9765/1 myeloma|C0027014 10 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED HEMANGIOMATOSIS, DISSEMINATED, INCLUDED hemangiomas|C0018916 angioma|C0018916 11 107400 PROTEASE INHIBITOR 1 PI PI1 ALPHA-1-ANTITRYPSIN AAT ANTI-ELASTASE ANTITRYPSIN SERPINA1 ALPHA-1-ANTITRYPSIN DEFICIENCY, AUTOSOMAL RECESSIVE, INCLUDED FIELD MN A hepatocellular carcinoma|C0345904 12 107480 TOWNES-BROCKS SYNDROME TBS RENAL-EAR-ANAL-RADIAL SYNDROME REAR SYNDROME ANUS, IMPERFORATE, WITH HAND, FOOT AND EAR ANOMALIES DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND HYPOPLASTIC THUMBS BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED multicystic kidneys|C0345335 13 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA nevus|C0027960 14 107950 ARRHENOBLASTOMA--THYROID ADENOMA adenoma|C0001430 arrhenoblastoma|C0003810 15 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA AMC hemangioma|C0018916 capillary hemangioma|C0206733 16 109130 AXIAL OSTEOMALACIA polycystic kidney|C0085548 17 109350 GASTROESOPHAGEAL REFLUX GER BARRETT METAPLASIA, INCLUDED BARRETT ESOPHAGUS, INCLUDED ADENOCARCINOMA OF ESOPHAGUS, INCLUDED adenocarcinoma|C0007097 18 109390 BASAL CELL CARCINOMAS WITH MILIA AND COARSE, SPARSE HAIR basal cell carcinomas|C0205641 19 109543 B-CELL MALIGNANCY, LOW-GRADE DISRUPTED IN B-CELL MALIGNANCY DBM LEUKEMIA, CHRONIC LYMPHOCYTIC, B-CELL BCLL lymphocytic leukemia|C0023494 leukemia|C0023418 chronic lymphocytic leukemia|C0023458 20 109560 B-CELL LEUKEMIA lymphocytic leukemia|C0023494 leukemia|C0023418 chronic lymphocytic leukemia|C0023458 21 109800 BLADDER CANCER transitional cell|C0225341 bladder carcinoma|C0005684 22 112200 BLUE RUBBER BLEB NEVUS BEAN SYNDROME hemangioma|C0018916 angioma|C0018916 hemangiomas|C0018916 medulloblastoma|C0025149 angiomas|C0018916 23 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA DMSMFH BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA BDMF BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA malignant fibrous histiocytoma|C0334463 fibrous histiocytoma|C0206644 histiocytoma|C0002991 24 113600 BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED cysts|C0010709 25 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING BRANCHIOOCULOFACIAL SYNDROME BOF SYNDROME BOFS HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME cystic kidney|C0022679 cysts|C0010709 26 113650 BRANCHIOOTORENAL DYSPLASIA BOR SYNDROME BOR BRANCHIOOTIC SYNDROME MELNICK-FRASER SYNDROME polycystic kidneys|C0085548 cysts|C0010709 27 113970 BURKITT LYMPHOMA BL lymphoma|C0024299 burkitt lymphoma|9687/3 28 114030 CAFE-AU-LAIT SPOTS, MULTIPLE CAFE-AU-LAIT SPOTS, MULTIPLE, WITH LEUKEMIA, INCLUDED CAFE-AU-LAIT SPOTS, MULTIPLE, WITH GLIOMA, INCLUDED neurofibromas|C0027830 29 114400 LYNCH CANCER FAMILY SYNDROME II LCFS2 CANCER FAMILY SYNDROME gastric cancer|C0024623 leukemia|C0023418 endometrial carcinoma|C0007103 brain tumors|C0006118 ovarian cancer|C0029925 neoplasms|C0036210 breast cancer|C0006142 sarcoma|C0036213 malignant neoplasms|C0334224 30 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS HNPCC COLON CANCER, FAMILIAL NONPOLYPOSIS COLORECTAL CANCER CRC LYNCH CANCER FAMILY SYNDROME I renal cell carcinoma|8312/3 transitional carcinoma|C0007138 leiomyosarcoma|C0023269 endometrial carcinoma|C0007103 hereditary nonpolyposis colorectal carcinoma|C0009405 colorectal carcinoma|C0009402 apc|C0032580 31 114550 HEPATOCELLULAR CARCINOMA HCC CANCER, HEPATOCELLULAR LIVER CANCER LIVER CELL CARCINOMA LCC HEPATOMA liver cancer|C0345904 hepatocellular carcinoma|C0345904 hepatocellular carcinomas|C0345904 met|C0027627 32 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT endocrinopathy|C0014130 33 114835 CARBOXYLESTERASE 1 CES1 SERINE ESTERASE 1 SES1 CARBOXYLESTERASE, LIVER CARBOXYLESTERASE 2, FORMERLY CES2, FORMERLY MONOCYTE ESTERASE DEFICIENCY, INCLUDED MONOCYTE CARBOXYLESTERASE DEFICIENCY, INCLUDED leukemia|C0023418 lymphocytic leukemia|C0023494 chronic lymphocytic leukemia|C0023458 lymphoma|C0024299 34 114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5 CEACAM5 CARCINOEMBRYONIC ANTIGEN CEA adenocarcinomas|C0007097 35 114900 CARCINOID TUMORS, INTESTINAL carcinoid|8240/3 malignant carcinoid|C0391970 36 115310 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA carotid body tumors|C0007279 pheochromocytomas|C0031511 37 117550 SOTOS SYNDROME CEREBRAL GIGANTISM malignancy|C0006826 wilms tumor|C0027708 38 117600 CEREBRAL SARCOMA fibrosarcoma|C0016057 39 117650 CEREBROCOSTOMANDIBULAR SYNDROME CCM SYNDROME CCMS RIB GAP DEFECTS WITH MICROGNATHIA cyst|C0010709 40 117800 EAR WAX, WET breast cancer|C0006142 41 118330 CHEILITIS GLANDULARIS squamous cell carcinoma|C0007137 42 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS chemodectomas|C0030422 angiolipomas|C0206632 43 118865 CHOROIDAL OSTEOMA, BILATERAL osteoma|C0029440 44 119500 POPLITEAL PTERYGIUM SYNDROME PPS CLEFT LIP cysts|C0010709 45 119600 CLEIDOCRANIAL DYSPLASIA CCD CLEIDOCRANIAL DYSOSTOSIS CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED cysts|C0010709 46 120330 PAPILLORENAL SYNDROME RENAL-COLOBOMA SYNDROME OPTIC NERVE COLOBOMA WITH RENAL DISEASE COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES cysts|C0010709 47 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 FCC2 COCA2 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 HNPCC2 MutL, E. COLI, HOMOLOG OF, 1, INCLUDED MLH1, INCLUDED colon cancer|C0007102 48 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS cyst|C0010709 49 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT DYSKERATOSIS CONGENITA, SCOGGINS TYPE DKC premalignant|C0032927 leukokeratosis|C0023531 50 127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL DKBI leukoplakia|C0023531 51 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL chondromas|C0936248 osteochondromas|C0029423 52 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST cyst|C0010709 53 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I MEN1 MEN I ENDOCRINE ADENOMATOSIS, MULTIPLE MEA I WERMER SYNDROME ZOLLINGER-ELLISON SYNDROME, INCLUDED ZES, INCLUDED MENIN, INCLUDED FIELD MN Mu glucagonoma|C0017689 pituitary adenoma|8272/0 lipomas|C0023798 carcinoid tumors|8240/3 insulinoma|C0021670 adrenocortical adenomas|C0206667 adenoma|C0001430 carcinoid|8240/3 adenomas|C0001430 gastrinoma|C0017150 prolactinoma|C0033375 islet cell adenoma|C0022134 54 131200 ENDOMETRIOSIS cysts of ovary|C0029927 cysts|C0010709 55 131445 EPENDYMOMA, FAMILIAL ependymoma|C0014474 56 131600 EPIDERMOID CYSTS cysts|C0010709 epidermoid cysts|C0014511 57 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE ALBOPAPULOID DOMINANT DYSTROPHIC EB EBDD EPIDERMOLYSIS BULLOSA, PRETIBIAL, WITH LICHENOID FEATURES, INCLUDED malignancy|C0006826 58 132600 PILOMATRIXOMA PILOMATRICOMA PTR EPITHELIOMA CALCIFICANS OF MALHERBE pilomatrixoma|C0206711 epithelioma|C0553707 59 132700 CYLINDROMATOSIS, FAMILIAL CYLD epithelioma|C0553707 60 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA MSSE FERGUSON-SMITH TYPE EPITHELIOMA EPITHELIOMA, SELF-HEALING SQUAMOUS, 1 ESS1 epithelioma|C0553707 61 133180 ERYTHROLEUKEMIA, FAMILIAL DI GUGLIELMO DISEASE, FAMILIAL leukemia|C0023418 myelodysplasia|C0033027 62 133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED mcc|C0007129 esophageal cancer|C0546837 apc|C0032580 63 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3 ERCC3 XERODERMA PIGMENTOSUM II, INCLUDED XP2, INCLUDED XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B, INCLUDED XPB, INCLUDED XP, GROUP B, INCLUDED XPBC, INCLUDED xeroderma pigmentosum|C0043346 64 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5 ERCC5 UV-DAMAGE, EXCISION REPAIR OF, UV-135 UVDR ERCM2 ULTRAVIOLET SENSITIVITY, MOUSE, COMPLEMENTATION OF RAD2, YEAST, HOMOLOG OF XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN XPGC XPG XERODERMA PIGMENTOSUM xeroderma pigmentosum|C0043346 65 133600 EXOSTOSES OF HEEL exostosis|C0029423 66 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E multiple exostoses|C0015306 67 133701 EXOSTOSES, MULTIPLE, TYPE II EXT2 EXOSTOSIN 2, INCLUDED chondrosarcoma|C0008479 68 134780 FEMORAL-FACIAL SYNDROME FFS FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME FHUFS polycystic kidneys|C0085548 69 135150 BIRT-HOGG-DUBE SYNDROME BHD FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS colonic polyps|C0009376 fibrofolliculomas|C0346009 cysts|C0010709 renal tumors|C0022665 polyps|C0032584 trichodiscomas|C0346011 70 135290 DESMOID DISEASE, HEREDITARY FIBROMATOSIS, FAMILIAL INFILTRATIVE FIF desmoid|C0079218 desmoid tumor|C0079218 71 135900 FIFTH DIGIT SYNDROME COFFIN-SIRIS SYNDROME hemangioma|C0018916 72 136680 FRASIER SYNDROME gonadoblastoma|C0206661 wilms tumor|C0027708 73 136760 FRONTONASAL DYSPLASIA MEDIAN FACIAL CLEFT SYNDROME lipoma|C0023798 74 137215 GASTRIC CANCER gastric cancer|C0024623 75 137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME GUD wilms tumor|C0027708 wagr contiguous gene syndrome|C0206115 76 137360 GENOCHONDROMATOSIS chondromatosis|C0206636 77 137550 GIANT PIGMENTED HAIRY NEVUS GPHN nevus|C0027960 pigmented nevi|C0027962 melanoma|C0025202 nevi|C0027960 hairy nevus|C0018508 78 137575 GIGANTIFORM CEMENTOMA, FAMILIAL CEMENTOMAS, FAMILIAL MULTIPLE CEMENTAL DYSPLASIA, PERIAPICAL gigantiform cementoma|C0334562 cementoma|C0007659 79 137800 GLIOMA OF BRAIN, FAMILIAL GLIOBLASTOMA MULTIFORME, INCLUDED GLM, INCLUDED GBM, INCLUDED ASTROCYTOMA, INCLUDED OLIGODENDROGLIOMA, INCLUDED glioma|C0555198 80 138000 GLOMUVENOUS MALFORMATIONS GVM VENOUS MALFORMATIONS WITH GLOMUS CELLS VMGLOM GLOMUS TUMORS, MULTIPLE GLOMANGIOMAS, MULTIPLE glomus tumors|8711/0 81 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES MULTINODULAR GOITER cystic kidney|C0022679 cystic kidney disease|C0022679 82 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE RAPHE, SUPRAUMBILICAL MIDLINE, WITH CAVERNOUS FACIAL HEMANGIOMAS STERNAL NONUNION WITH SUPRAUMBILICAL RAPHE cavernous hemangiomas|C0752160 hemangiomas|C0018916 83 140900 HEMANGIOMAS OF SMALL INTESTINE cavernous hemangiomas|C0752160 hemangiomas|C0018916 84 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME KASABACH-MERRITT SYNDROME KMS hemangiomas|C0018916 85 142330 HEPATIC ADENOMAS, FAMILIAL LIVER CELL ADENOMAS, FAMILIAL adenomas|C0001430 86 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS skin tumors|C0037286 87 143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL MRD PELVIURETERIC JUNCTION OBSTRUCTION PUJO HYDRONEPHROSIS DUE TO PUJO sarcoma|C0036213 88 145001 HYPERPARATHYROIDISM 2 HRPT2 HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED fibromas|C0016045 ossifying fibromas|C0206640 adenomas|C0001430 89 145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II HHC2 FAMILIAL BENIGN HYPERCALCEMIA, TYPE II FBH2 HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II lipomas|C0023798 90 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SMMCI INCISORS, FUSED FUSED INCISORS SINGLE UPPER CENTRAL INCISOR SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME SMMCI SYNDROME hamartoma|C0018552 91 147630 ISLET CELL ADENOMATOSIS adenomas|C0001430 92 147800 AASE-SMITH SYNDROME JOINT CONTRACTURES WITH OTHER ABNORMALITIES neuroblastoma|C0027819 93 148000 KAPOSI SARCOMA MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA kaposi sarcoma|C0036220 sarcoma|C0036213 94 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT KID SYNDROME, AUTOSOMAL DOMINANT skin cancer|C0007114 95 148390 KERATOSES, FAMILIAL ACTINIC malignancies|C0006826 uterine carcinoma|C0153567 96 148500 TYLOSIS WITH ESOPHAGEAL CANCER TOC KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER oral leukoplakia|C0023532 esophageal cancer|C0546837 leukoplakia|C0023531 97 148820 KLEIN-WAARDENBURG SYNDROME WAARDENBURG SYNDROME, TYPE III WS3 WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES WHITE FORELOCK WITH MALFORMATIONS musculoskeletal|C0497254 98 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME KTW SYNDROME KLIPPEL-TRENAUNAY SYNDROME KTS ANGIOOSTEOHYPERTROPHY SYNDROME lymphangioma|C0024221 nevi|C0027960 99 150699 LEIOMYOMA, UTERINE leiomyomas|C0023267 uterine leiomyomas|C0042133 100 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS LEIOMYOMATOSIS, ESOPHAGOGASTRIC AND VULVAR leiomyoma|C0023267 101 151380 LEUKEMIA, ACUTE MONOCYTIC leukemia|C0023418 monocytic leukemia|C0598894 acute monocytic leukemia|C0023465 102 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1 RUNX1 ACUTE MYELOID LEUKEMIA 1 GENE AML1 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2 CBFA2 PEBP2-ALPHA-B PEBP2AB AML1 leukemia|C0023418 acute myeloid leukemia|9861/3 myeloid leukemia|C0023487 103 151390 LEUKEMIA, ACUTE T-CELL ATL ACUTE T-CELL LYMPHOBLASTIC LEUKEMIA TCL2 leukemia|C0023418 104 151400 LEUKEMIA, CHRONIC LYMPHATIC CLL leukemia|C0023418 chronic lymphatic leukemia|C0023458 lymphatic leukemia|C0023448 105 151440 LEUKEMIA, LYMPHOID, 1 LYL1 lymphoid leukemia|C0023448 leukemia|C0023418 106 151441 LEUKEMIA leukemia|C0023418 lymphoma|C0024299 107 151590 LICHEN SCLEROSUS ET ATROPHICUS LSA squamous cell carcinoma|C0007137 108 151600 LEUKONYCHIA TOTALIS PORCELAIN NAILS sebaceous cysts|C0014511 cysts|C0010709 109 151623 LI-FRAUMENI SYNDROME LFS SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME LI-FRAUMENI SYNDROME-VARIANT, INCLUDED LFS-VARIANT, INCLUDED adrenocortical carcinoma|C0346402 osteosarcoma|C0029463 sarcomas|C0036213 histiocytic lymphoma|C0079745 leukemia|C0023418 melanoma|C0025202 brain tumors|C0006118 prostate carcinoma|C0376358 adenocarcinoma|C0007097 breast cancer|C0006142 rhabdomyosarcoma|C0035412 germ cell tumors|C0206660 pancreatic carcinoma|C0346647 soft tissue sarcomas|C0036210 lymphoma|C0024299 110 151640 LIP, HAMARTOMATOUS ENLARGEMENT OF LOWER LIP hamartoma|C0018552 111 151700 LIPOMA OF THE CONJUNCTIVA lipoma|C0023798 112 151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, MULTIPLE SYMMETRIC LMS MSL lipomata|C0023798 113 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA BANNAYAN-ZONANA SYNDROME BZS MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED BRRS, INCLUDED BRR SYNDROME, INCLUDED RILEY-SMITH SYNDROME, INCLUDED RUVALCABA-MYHRE-SMITH SYNDROME, INCLUDED RMSS, INCLUDED cowden disease|C0018553 angiokeratoma|C0002985 meningioma|C0025286 hemangiomas|C0018916 polyps|C0032584 lipoma|C0023798 114 153600 MACROGLOBULINEMIA, WALDENSTROM WM leukemia|C0023418 waldenstrom macroglobulinemia|C0024419 macroglobulinemia|C0024419 lymphoma|C0024299 115 153880 MACULAR EDEMA, CYSTOID CYSTOID MACULAR DYSTROPHY CYMD MACULAR DYSTROPHY, DOMINANT CYSTOID MDDC cystoid macular edema|C0024440 116 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE AFD1 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES NAGER ACROFACIAL DYSOSTOSIS AFD, NAGER TYPE urticaria pigmentosa|C0042111 117 154800 MAST CELL DISEASE MASTOCYTOSIS URTICARIA PIGMENTOSA, INCLUDED systemic mastocytosis|C0221013 mastocytosis|C0024899 cutaneous mastocytosis|C1136033 urticaria pigmentosa|C0042111 118 155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA PAI SYNDROME lipomas|C0023798 polyps|C0032584 119 155240 THYROID CARCINOMA, FAMILIAL MEDULLARY MTC MTC1 MTCF thyroid carcinoma|C0007115 120 155255 MEDULLOBLASTOMA MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED medulloblastoma|C0025149 medulloblastomas|C0025149 121 155310 MEGADUODENUM AND ganglion|C0085648 122 155601 MELANOMA, CUTANEOUS MALIGNANT, 2 CMM2 melanoma|C0025202 malignant melanoma|C0206651 123 155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR melanoma|C0025202 124 155720 MELANOMA, UVEAL malignancy|C0006826 melanoma|C0025202 125 155755 MELANOMA-ASTROCYTOMA SYNDROME MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME astrocytoma|C0004114 melanoma|C0025202 cutaneous malignant melanoma|C0151779 malignant melanoma|C0206651 126 156240 MESOTHELIOMA, MALIGNANT malignant mesothelioma|C0345967 mesothelioma|C0025500 127 156250 METACHONDROMATOSIS multiple exostoses|C0015306 128 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE cyst|C0010709 129 156610 MICHELIN TIRE BABY SYNDROME SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS neuroblastoma|C0027819 130 157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 1 MGR1 MGAU MA MIGRAINE physical activity|C0221187 131 158320 MUIR-TORRE SYNDROME MTS CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS sebaceous epitheliomas|C0334683 sebaceous carcinoma|C0206684 sebaceous adenomas|C0334351 duodenal carcinoma|C0153426 colon cancer|C0007102 laryngeal carcinoma|J0023055 breast cancer|C0006142 epitheliomas|C0553707 adenomas|C0001430 basal cell carcinoma|C0205641 132 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS multiple exostoses|C0015306 133 158350 COWDEN DISEASE CD COWDEN SYNDROME CS MULTIPLE HAMARTOMA SYNDROME MHAM COWDEN-LIKE SYNDROME, INCLUDED DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED CPD VI, INCLUDED CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED LHERMITTE-DUCLOS DISEASE, INCLUDED LDD, INCLUDED fibroadenomas|C0206650 meningioma|C0025286 ovarian cysts|C0029927 adenoma|C0001430 leiomyomas|C0023267 cysts|C0010709 fibrocystic breast|C0016034 transitional cell carcinoma|C0007138 adenocarcinoma|C0007097 thyroid cancer|C0007115 polyps|C0032584 gangliocytoma|C0017075 cervical carcinoma|C0007847 fibrocystic breast disease|C0016034 lipomas|C0023798 papillomas|C0030354 transitional cell|C0225341 trichilemmomas|C1142243 ovarian carcinoma|C0029925 breast cancer|C0006142 134 159550 MYELOCEREBELLAR DISORDER ATAXIA-PANCYTOPENIA SYNDROME myelomonocytic leukemia|C0027019 leukemia|C0023418 acute myelomonocytic leukemia|C0023479 135 159552 MYELOID CELL LEUKEMIA 1 MCL1 MYELOID CELL LEUKEMIA 1, LONG ISOFORM, INCLUDED MCL1L, INCLUDED MYELOID CELL LEUKEMIA 1, SHORT ISOFORM, INCLUDED MCL1S, INCLUDED leukemia|C0023418 136 159555 MYELOID myelomonocytic leukemia|C0027019 lymphoid leukemia|C0023448 leukemia|C0023418 acute myelomonocytic leukemia|C0023479 monoblastic leukemia|C0598894 acute monoblastic leukemia|C0023465 acute lymphoid leukemia|C0023449 acute myeloid leukemia|9861/3 myeloid leukemia|C0023487 137 159556 MYELOID leukemia|C0023418 138 159557 MYELOID leukemia|C0023418 139 159558 MYELOID leukemia|C0023418 140 160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT viral illness|C0042769 141 161550 NASOPHARYNGEAL CARCINOMA NASOPHARYNGEAL CANCER nasopharyngeal cancer|C0153392 142 162091 SCHWANNOMATOSIS NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS vestibular schwannomas|C0027859 schwannomas|C0027859 143 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL NEUROFIBROMATOSIS, FAMILIAL SPINAL, WITHOUT CAFE-AU-LAIT MACULES, INCLUDED neurofibromatosis|C0162678 144 162220 NEUROFIBROMATOSIS, FAMILIAL INTESTINAL NF3B neurofibromatosis|C0162678 145 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME NPDC SYNDROME DUODENAL CARCINOID SYNDROME carcinoid tumor|8240/3 neurofibromatosis|C0162678 pheochromocytoma|C0031511 carcinoid|8240/3 146 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL NF3A NEUROFIBROMATOSIS, TYPE III, OF RICCARDI NF III NEUROFIBROMATOSIS, TYPE III, RICCARDI TYPE NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED meningiomas|C0025286 neuromas|C0027858 acoustic neuromas|C0027859 neurofibromas|C0027830 cns tumors|C0085136 147 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI NF4 NEUROFIBROMATOSIS, VARIANT FORM neurofibromatosis|C0162678 148 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB MEN2B MEN IIB NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS MUCOSAL NEUROMA SYNDROME MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY MEN3, FORMERLY WAGENMANN-FROBOESE SYNDROME GANGLIONEUROMATOSIS OF THE ALIMENTARY TRACT, INCLUDED thyroid cancer|C0007115 neuromas|C0027858 thyroid carcinoma|C0007115 pheochromocytoma|C0031511 ganglioneuroma|C0017075 149 162400 NEUROPATHY, HEREDITARY SENSORY, TYPE I HSN1 HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY I HSAN I NEUROPATHY, HEREDITARY SENSORY RADICULAR ganglion|C0085648 150 162900 NEVI PIGMENTED MOLES pigmented moles|C0027962 moles|C0349514 nevi|C0027960 151 163000 NEVI FLAMMEI, FAMILIAL MULTIPLE PORT-WINE STAIN CAPILLARY MALFORMATIONS CMAL nevi|C0027960 152 163050 NEVUS ANEMICUS nevus|C0027960 153 163100 NEVUS FLAMMEUS OF NAPE OF NECK UNNA NEVUS ERYTHEMA NUCHAE nevus|C0027960 154 163200 NEVUS SEBACEUS OF JADASSOHN LINEAR SEBACEOUS NEVUS SYNDROME SEBACEOUS NEVUS SYNDROME, LINEAR EPIDERMAL NEVUS SYNDROME JADASSOHN NEVUS PHAKOMATOSIS JNP hemangioma|C0018916 basal cell carcinoma|C0205641 nevus|C0027960 155 164050 NUCLEOSIDE PHOSPHORYLASE NP PURINE-NUCLEOSIDE lymphoma|C0024299 lymphosarcoma|C0079734 156 164180 OCULOCEREBROCUTANEOUS SYNDROME OCCS ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS DELLEMAN SYNDROME cysts|C0010709 157 164210 HEMIFACIAL MICROSOMIA HFM OCULOAURICULOVERTEBRAL DYSPLASIA OAV DYSPLASIA GOLDENHAR SYNDROME FACIOAURICULOVERTEBRAL SEQUENCE FAV SEQUENCE OCULOAURICULOVERTEBRAL SPECTRUM OAVS multicystic dysplastic kidney|C0345335 dermoid|C0011649 158 164330 ODONTOMA-DYSPHAGIA SYNDROME odontoma|C0028882 159 165300 OPTIC ATROPHY, CATARACT, AND NEUROLOGIC DISORDER neurologic disorder|C0027765 160 165630 ORGANOID NEVUS PHAKOMATOSIS SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME SFM SYNDROME nevus|C0027960 161 165660 OSLAM SYNDROME OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTIC MARROW osteosarcoma|C0029463 162 166000 ENCHONDROMATOSIS, MULTIPLE OSTEOCHONDROMATOSIS DYSCHONDROPLASIA MAFFUCCI SYNDROME, INCLUDED OLLIER DISEASE, INCLUDED osteochondromatosis|C0206641 granulosa cell tumor|C0018206 chondrosarcoma|C0008479 juvenile granulosa cell tumor|8622/1 163 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE POH ECTOPIC OSSIFICATION, FAMILIAL OSTEOMA CUTIS pigmented nevi|C0027962 osteoma|C0029440 nevi|C0027960 164 166400 OSTEOMAS OF MANDIBLE osteomas|C0029440 165 166700 BUSCHKE-OLLENDORFF SYNDROME BOS DERMATOOSTEOPOIKILOSIS DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED nevi|C0027960 166 166950 OVARIAN TERATOMA DERMOID CYST teratoma|C0039538 167 166970 OVARIAN FIBROMATA fibroma|C0016045 168 167000 SUPPRESSOR OF TUMORIGENICITY 8 ST8 OVARIAN CANCER, FAMILIAL, INCLUDED OVARIAN TUMOR, INCLUDED PERITONEAL OVARIAN CARCINOMATOSIS, INCLUDED dysgerminoma|C0013377 ovarian cancer|C0029925 adenocarcinoma|C0007097 cystadenocarcinoma|C0010631 papillary adenocarcinoma|C0206683 breast cancer|C0006142 169 167200 PACHYONYCHIA CONGENITA, TYPE 1 PC1 PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE JADASSOHN-LEWANDOWSKY SYNDROME oral leukoplakia|C0023532 steatocystoma|C0014511 leukoplakia|C0023531 170 167210 PACHYONYCHIA CONGENITA, TYPE 2 PC2 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE cylindroma|8200/3 oral leukoplakia|C0023532 leukoplakia|C0023531 171 167250 PAGET DISEASE OF BONE 1 PDB1 giant cell tumor|C0017525 osteogenic sarcoma|C0279603 sarcoma|C0036213 paget disease|C0030186 172 167300 PAGET DISEASE, EXTRAMAMMARY malignancy|C0006826 extramammary paget disease|C0030186 paget disease|C0030186 173 167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME lipomas|C0023798 174 167800 PANCREATITIS, HEREDITARY PCTT HPC HP PANCREATITIS, CHRONIC PANCREATITIS, CALCIFIC, INCLUDED pancreatic pseudocysts|C0030299 175 167900 PAPILLOMATOSIS, FAMILIAL CUTANEOUS papillomatosis|C0205875 papillomas|C0030354 176 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE papillomatosis|C0205875 177 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT PARKINSON DISEASE, JUVENILE, OF HUNT large cells|9714/3 178 168461 CYCLIN D1 CCND1 PARATHYROID ADENOMATOSIS 1 PRAD1 B-CELL CLL adenomas|C0001430 179 170993 PEROXISOMAL MEMBRANE PROTEIN 3 PXMP3 PEROXISOMAL MEMBRANE PROTEIN, 35-KD PMP35 PEROXISOMAL ASSEMBLY FACTOR 1 PAF1 PEROXIN 2 PEX2 ZELLWEGER SYNDROME 3, INCLUDED ZWS3, INCLUDED ZELLWEGER SYNDROME, COMPLEMENTATION GROUP F, INCLUDED ZELLWEGER SYNDROME, COMPLEMENTATION GROUP 5, INCLUDED cysts|C0010709 180 170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 ABCD3 PEROXISOMAL MEMBRANE PROTEIN 1 PXMP1 PEROXISOMAL MEMBRANE PROTEIN, 70-KD PMP70 ZELLWEGER SYNDROME 2, INCLUDED ZWS2, INCLUDED cysts|C0010709 181 171300 PHEOCHROMOCYTOMA pheochromocytoma|C0031511 182 171350 PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL pheochromocytoma|C0031511 183 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME islet cell tumor|8150/1 pheochromocytoma|C0031511 184 172800 PIEBALD TRAIT PBT PIEBALDISM epitheliomas|C0553707 185 173000 PILONIDAL SINUS pilonidal sinus|C0031925 186 173420 PLATELET DISORDER, UNDEFINED neoplasms|C0036210 neuroblastoma|C0027819 hematologic neoplasms|C0376545 187 173600 PNEUMOTHORAX, SPONTANEOUS cysts|C0010709 188 173910 POLYCYSTIC KIDNEY DISEASE 2 PKD2 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II APKD2 POLYCYSTIN 2, INCLUDED cysts|C0010709 polycystic kidney|C0085548 189 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1 MCKD1 MCKD MEDULLARY CYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT ADMCKD1 POLYCYSTIC KIDNEYS, MEDULLARY TYPE cysts|C0010709 polycystic kidneys|C0085548 190 174050 POLYCYSTIC LIVER DISEASE PCLD cysts|C0010709 pancreatic cysts|C0030283 191 174900 POLYPOSIS, JUVENILE INTESTINAL PJI JUVENILE INTESTINAL POLYPOSIS JIP POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS SYNDROME JPS JUVENILE POLYPOSIS OF STOMACH, INCLUDED polyps|C0032584 colon cancer|C0007102 192 175020 POLYPOSIS, GASTRIC adenocarcinoma|C0007097 polyps|C0032584 193 175200 PEUTZ-JEGHERS SYNDROME PJS POLYPOSIS, HAMARTOMATOUS INTESTINAL POLYPS-AND-SPOTS SYNDROME pancreatic cancer|C0346647 ovarian cysts|C0029927 uterine cancer|C0153567 cysts|C0010709 sertoli cell tumors|C0036769 thyroid cancer|C0007115 polyps|C0032584 testicular tumors|C0039590 sertoli cell tumor|C0036769 sex cord tumors|C0206724 breast cancer|C0006142 nasal polyps|C0027430 194 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE POLYPS, SCATTERED, DISCRETE INTESTINAL intestinal polyps|C0021846 polyps|C0032584 195 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES intestinal polyps|C0021846 polyps|C0032584 multiple exostoses|C0015306 196 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES CRONKHITE-CANADA SYNDROME polyps|C0032584 197 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI FUNDIC GLAND POLYPOSIS polyps|C0032584 polyposis coli|C0032580 198 175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL polyps|C0032584 fibroid|C0042133 199 175750 POPLITEAL CYST BAKER CYST cyst|C0010709 popliteal cyst|C0032650 200 175780 PORENCEPHALY, FAMILIAL HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY cyst|C0010709 201 175800 POROKERATOSIS OF MIBELLI skin cancer|C0007114 202 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1 PBX1 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR PSEUDOGENE 1, INCLUDED PBXP1, INCLUDED PBX1 lymphoblastic leukemia|9835/3 leukemia|C0023418 acute lymphoblastic leukemia|9835/3 203 176450 CURRARINO SYNDROME CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND teratoma|C0039538 metastases|C0027627 204 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI MULVIHILL-SMITH SYNDROME pigmented nevi|C0027962 nevi|C0027960 205 176705 PROHIBITIN PHB breast cancer|C0006142 206 176797 ZINC FINGER PROTEIN 145 ZNF145 PROMYELOCYTIC LEUKEMIA ZINC FINGER PLZF PLZF-RARA FUSION GENE, INCLUDED leukemia|C0023418 apl|C0023487 207 176807 PROSTATE CANCER prostate cancer|C0376358 208 176960 PROTEIN KINASE C, ALPHA PRKCA PKCA melanoma|C0025202 pituitary tumor|C0032019 209 177900 PSORIASIS SUSCEPTIBILITY PSORIASIS SUSCEPTIBILITY 1, INCLUDED PSORS1, INCLUDED multiple exostoses|C0015306 210 178500 PULMONARY FIBROSIS, IDIOPATHIC HAMMAN-RICH DISEASE FIBROSING ALVEOLITIS, CRYPTOGENIC alveolar cell carcinoma|C0007120 211 179755 RENAL CELL CARCINOMA, PAPILLARY, 1 GENE PRCC RCCP1 PRCC renal cell carcinomas|8312/3 papillary renal cell carcinomas|8260/3 212 179760 RENAL CELL CARCINOMA 2 RCC2 renal cell carcinoma|8312/3 213 179770 RENAL CELL CARCINOMA 3 RCC3 renal cell carcinoma|8312/3 214 180240 RETINOIC ACID RECEPTOR, ALPHA RARA RAR, ALPHA FORM ACUTE PROMYELOCYTIC LEUKEMIA BREAKPOINT CLUSTER REGION, INCLUDED promyelocytic leukemia|C0023487 leukemia|C0023418 acute promyelocytic leukemia|9866/3 215 180550 RING DERMOID OF CORNEA dermoids|C0011649 216 180700 ROBINOW SYNDROME ROBINOW DWARFISM FETAL FACE SYNDROME ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES nevus|C0027960 217 180730 ROMBO SYNDROME trichoepitheliomas|C0334261 basal cell carcinomas|C0205641 218 180860 SILVER-RUSSELL SYNDROME SRS RUSSELL-SILVER SYNDROME RSS SILVER-RUSSELL DWARFISM testicular seminoma|C0036631 hepatocellular carcinoma|C0345904 wilms tumor|C0027708 craniopharyngioma|C0010276 seminoma|C0036631 219 181000 SARCOIDOSIS BOECK SARCOID bone cysts|C0005937 cysts|C0010709 220 181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC SGPA PSA adenoma|C0001430 221 181035 SARCOMA AMPLIFIED SEQUENCE SAS uterine leiomyoma|C0042133 liposarcoma|C0023827 lipoma|C0023798 fibrous histiocytoma|C0206644 histiocytoma|C0002991 leiomyoma|C0023267 myxoid liposarcoma|C0206634 malignant fibrous histiocytoma|C0334463 sarcoma|C0036213 222 181600 SCLEROTYLOSIS TYS SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS HURIEZ SYNDROME HRZ bowel cancer|C0346627 223 182000 SEBORRHEIC KERATOSES verrucae|C0043037 224 182280 SMALL CELL CANCER OF THE LUNG SCLC1 SCLC SCCL radiotherapy|C0034618 225 182940 SPINA BIFIDA T lipoma|C0023798 226 182990 SPINAL INTRADURAL ARACHNOID CYSTS cysts|C0010709 arachnoid cysts|C0078981 227 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE SEMD, STRUDWICK TYPE SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE SMED, STRUDWICK TYPE SMED, TYPE I STRUDWICK SYNDROME DAPPLED METAPHYSIS SYNDROME SPONDYLOMETAPHYSEAL DYSPLASIA SMD hemangioma|C0018916 228 184500 STEATOCYSTOMA MULTIPLEX SEBACEOUS CYSTS, MULTIPLE sebaceous cysts|C0014511 cysts|C0010709 steatocystoma|C0014511 229 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH steatocystomas|C0014511 230 186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES ARTHROCUTANEOUVEAL GRANULOMATOSIS ACUG JABS SYNDROME BLAU SYNDROME GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL GRANULOMATOSIS, FAMILIAL, BLAU TYPE cysts|C0010709 231 186600 SYRINGOMAS, MULTIPLE sweat gland tumors|C0038987 232 186770 HOMEO BOX 11 HOX11 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA T-CELL LEUKEMIA 3 TCL3 acute lymphoblastic leukemias|9835/3 lymphoblastic leukemias|9835/3 leukemias|C0023418 233 186860 T-CELL LEUKEMIA leukemia|C0023418 sezary syndrome|C0036920 234 186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT TCRA leukemia|C0023418 sezary syndrome|C0036920 mycosis fungoides|C0026948 lymphoma|C0024299 235 186960 T-CELL LEUKEMIA leukemia|C0023418 lymphocytic lymphoma|C0334634 lymphoma|C0024299 leukemias|C0023418 lymphomas|C0024299 236 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1 TAL1 STEM CELL LEUKEMIA HEMATOPOIETIC TRANSCRIPTION FACTOR SCL T-CELL LEUKEMIA leukemia|C0023418 lymphoma|C0024299 237 188450 THYROGLOBULIN TG hereditary congenital|C0027612 238 188470 THYROID CARCINOMA, FOLLICULAR FTC thyroid carcinoma|C0007115 239 188550 THYROID CARCINOMA, PAPILLARY PAPILLARY CARCINOMA OF THYROID PACT PTC TPC FAMILIAL NONMEDULLARY THYROID CANCER FNMTC NONMEDULLARY THYROID CARCINOMA NMTC papillary carcinoma of thyroid|8260/3 papillary carcinoma|C0206683 carcinoma of thyroid|C0007115 abdominal cancer|C0153662 240 188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2 TIMP2 breast cancer|C0006142 241 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1 ABL1 TRANSFORMATION GENE leukemia|C0023418 cml|C0023473 chronic myelogenous leukemia|9863/3 myelogenous leukemia|C0023476 242 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG MYB ONCOGENE MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG ONCOGENE AMV melanomas|C0025202 sarcomas|C0036213 acute lymphatic leukemia|C0023449 leukemia|C0023418 metastasis|C0027627 lymphatic leukemia|C0023448 243 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE PDGFB V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE PLATELET-DERIVED GROWTH FACTOR, B CHAIN PDGF, B CHAIN PDGF2 ONCOGENE SIS SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG SSV meningioma|C0025286 sarcoma|C0036213 244 190060 V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOG MOS MOLONEY MURINE SARCOMA VIRUS MSV ONCOGENE MOS leukemia|C0023418 acute myeloblastic leukemia|C0677622 myeloblastic leukemia|C0023479 245 190340 TRICHODISCOMAS, FAMILIAL MULTIPLE trichodiscoma|C0346011 246 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC trichoepithelioma|C0334261 247 190450 TRIOSEPHOSPHATE ISOMERASE 1 TPI1 TPI TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, INCLUDED neurologic disorder|C0027765 248 190920 TROPHOBLAST GLYCOPROTEIN TPBG M6P1 premalignant|C0032927 dysplasia of cervix|C0007868 249 191090 TUBEROUS SCLEROSIS 4 TSC4 TSC2, FORMERLY tuberous sclerosis|C0041341 250 191091 TUBEROUS SCLEROSIS 3 TSC3 tuberous sclerosis|C0041341 251 191160 TUMOR NECROSIS FACTOR TNF TUMOR NECROSIS FACTOR, ALPHA TNFA CACHECTIN TNF, MONOCYTE-DERIVED TNF, MACROPHAGE-DERIVED tumor cells|C0431085 252 191600 URETER, CANCER OF cancer of ureter|C0153619 253 191830 UROGENITAL ADYSPLASIA, HEREDITARY HEREDITARY RENAL ADYSPLASIA HRA RENAL AGENESIS BILATERAL RENAL AGENESIS BRA cyst|C0010709 254 192070 UV-DAMAGE, EXCISION REPAIR OF, UV-24 irradiation|C0034618 255 192090 CADHERIN 1 CDH1 CADHERIN, EPITHELIAL E-CADHERIN CDHE ECAD UVOMORULIN UVO CALCIUM-DEPENDENT ADHESION PROTEIN, EPITHELIAL metastasis|C0027627 endometrial carcinoma|C0007103 ovarian carcinoma|C0029925 256 193200 VITILIGO VTLG HALO NEVI, INCLUDED halo nevi|C0027962 nevi|C0027960 257 193220 VITREORETINOCHOROIDOPATHY VRCP VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT ADVIRC cystoid macular edema|C0024440 258 193670 WHIM SYNDROME WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS papillomatosis|C0205875 warts|C0043037 cervical dysplasia|C0007868 259 193900 WHITE SPONGE NEVUS OF CANNON WSN LEUKOKERATOSIS, HEREDITARY MUCOSAL leukokeratosis|C0023531 260 194070 WILMS TUMOR 1 WT1 NEPHROBLASTOMA wilms tumor|C0027708 nephroblastoma|C0027708 wilms tumors|C0027708 congenital malformation|C0000768 261 194071 MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1 MTACR1 WILMS TUMOR 2 WT2 nephroblastoma|C0027708 262 194072 WAGR SYNDROME WILMS TUMOR--ANIRIDIA--GENITOURINARY ANOMALIES--MENTAL RETARDATION SYNDROME WAGR SYNDROME WITH OBESITY, INCLUDED WAGRO, INCLUDED wilms tumor|C0027708 nephroblastoma|C0027708 263 194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM DRASH SYNDROME DENYS-DRASH SYNDROME NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES gonadoblastoma|C0206661 wilms tumor|C0027708 nephroblastoma|C0027708 wagr syndrome|C0206115 264 194090 WILMS TUMOR 3 WT3 nephroblastoma|C0027708 265 194190 WOLF-HIRSCHHORN SYNDROME WHS WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED WHCR, INCLUDED WHSCR, INCLUDED WOLF-HIRSCHHORN CHROMOSOME REGION 2, INCLUDED WHSCR2, INCLUDED cysts|C0010709 266 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT naevus|C0027960 267 194350 WT LIMB-BLOOD SYNDROME leukemia|C0023418 268 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD skin cancers|C0007114 xeroderma pigmentosum|C0043346 epitheliomas|C0553707 269 194533 ZINC FINGER PROTEIN 35 ZNF35 ZINC FINGER PROTEIN HF.10 HF10 renal carcinoma|C0007134 small cell lung cancer|C0149925 270 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION PSEUDOPROGERIA SYNDROME cyst|C0010709 271 200610 ACHONDROGENESIS, TYPE II ACG2 ACHONDROGENESIS, LANGER-SALDINO TYPE CHONDROGENESIS IMPERFECTA ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE II ACHONDROGENESIS, TYPE IB, FORMERLY hygroma|C0206620 cystic hygroma|C0206620 272 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA cavernous lymphangioma|C0205828 lymphangioma|C0024221 273 202300 ADRENOCORTICAL CARCINOMA, HEREDITARY ADCC ADRENOCORTICAL CARCINOMA CHROMOSOME REGION, INCLUDED ADCR, INCLUDED adrenocortical carcinoma|C0346402 274 202700 NEUTROPENIA, SEVERE CONGENITAL SCN NEUTROPENIA, CONGENITAL, AUTOSOMAL DOMINANT OR SPORADIC AGRANULOCYTOSIS, INFANTILE GENETIC KOSTMANN DISEASE, INCLUDED leukemia|C0023418 monocytic leukemia|C0598894 acute monocytic leukemia|C0023465 275 203300 HERMANSKY-PUDLAK SYNDROME HPS ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS DELTA STORAGE POOL DISEASE pigmented nevi|C0027962 nevi|C0027960 276 204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION primary amyloidosis|C0221015 277 207700 APLASIA CUTIS CONGENITA ACC SCALP DEFECT, CONGENITAL congenital defect|C0000768 278 207790 ARACHNOID CYSTS, INTRACRANIAL cysts|C0010709 arachnoid cysts|C0078981 279 208500 ASPHYXIATING THORACIC DYSTROPHY ATD JEUNE SYNDROME THORACIC-PELVIC-PHALANGEAL DYSTROPHY cysts|C0010709 cystic kidneys|C0022679 pancreatic cysts|C0030283 280 208540 ASPLENIA WITH CYSTIC LIVER, KIDNEY AND PANCREAS polycystic kidneys|C0085548 281 208550 ASTHMA, NASAL POLYPS, ASPIRIN INTOLERANCE ASA TRIAD polyps|C0032584 282 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH malignancy|C0006826 leukemia|C0023418 283 210300 BIEMOND CONGENITAL AND FAMILIAL ANALGESIA ganglion|C0085648 284 210600 SECKEL SYNDROME SCKL SCKL1 BIRD-HEADED DWARFISM SECKEL-TYPE DWARFISM NANOCEPHALIC DWARFISM MICROCEPHALIC PRIMORDIAL DWARFISM I cysts|C0010709 285 211380 BRACHIOSKELETOGENITAL SYNDROME BSG SYNDROME cysts|C0010709 dental cysts|C0031087 286 211410 BREAST CANCER, DUCTAL, 1 BRCD1 BREAST CANCER, DUCTAL, SUPPRESSOR-1 BCDS1 breast cancer|C0006142 287 211420 BREAST CANCER, DUCTAL, 2 BRCD2 BREAST CANCER SUPPRESSOR-2 BCDS2 breast cancer|C0006142 288 211750 C SYNDROME OPITZ TRIGONOCEPHALY SYNDROME TRIGONOCEPHALY SYNDROME cysts|C0010709 289 211890 CAMPOMELIA, CUMMING TYPE CERVICAL LYMPHOCELE WITH BOWED LONG BONES CUMMING SYNDROME polycystic kidney|C0085548 lymphocele|C0024248 290 211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED alveolar cell carcinoma|C0007120 291 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I cysts|C0010709 292 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II hemangioma|C0018916 capillary hemangioma|C0206733 293 213300 JOUBERT SYNDROME 1 JBTS1 CEREBELLOPARENCHYMAL DISORDER IV CPD IV CEREBELLAR VERMIS AGENESIS JOUBERT-BOLTSHAUSER SYNDROME cysts|C0010709 294 214100 ZELLWEGER SYNDROME ZS CEREBROHEPATORENAL SYNDROME CHR SYNDROME ZWS cysts|C0010709 295 214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES ZELLWEGER SYNDROME, VARIANT TYPES polycystic kidneys|C0085548 296 215300 CHONDROSARCOMA chondrosarcoma|C0008479 297 215400 CHORDOMA CHDM chordoma|9370/3 298 216360 COACH SYNDROME CEREBELLAR VERMIS HYPO cysts|C0010709 299 217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY hamartomas|C0018552 300 218040 COSTELLO SYNDROME FACIOCUTANEOSKELETAL SYNDROME FCS SYNDROME schwannoma|C0027859 bladder carcinoma|C0005684 epithelioma|C0553707 papillomas|C0030354 vestibular schwannoma|C0027859 rhabdomyosarcoma|C0035412 nevi|C0027960 301 219080 CUSHING DISEASE, ADRENAL ADRENOCORTICAL DYSPLASIA, NODULAR, PRIMARY adrenal carcinoma|C0750887 302 219090 CUSHING DISEASE, PITUITARY men1|C0025267 303 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY common bile duct|C0008340 304 220200 DANDY-WALKER SYNDROME DWS DANDY-WALKER MALFORMATION DWM cyst|C0010709 305 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT CRANIOCEREBELLOCARDIAC DYSPLASIA 3 cyst|C0010709 306 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY cyst|C0010709 307 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY DWM WITH POSTAXIAL POLYDACTYLY cyst|C0010709 308 221770 PRESENILE DEMENTIA WITH BONE CYSTS POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PLOSL DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA BRAIN-BONE-FAT DISEASE DEMENTIA, PREFRONTAL, WITH BONE CYSTS NASU-HAKOLA SYNDROME NASU-HAKOLA DISEASE NHD bone cysts|C0005937 leukemia|C0023418 cysts|C0010709 309 222300 WOLFRAM SYNDROME WFS DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS DIDMOAD psychiatric disorders|C0004936 310 222600 DIASTROPHIC DYSPLASIA DTD DD hemangioma|C0018916 311 223200 DISORGANIZATION, MOUSE, HOMOLOG OF DS lipoma|C0023798 312 223350 DOHLE BODIES AND LEUKEMIA leukemia|C0023418 acute myeloblastic leukemia|C0677622 myeloblastic leukemia|C0023479 313 223370 DUBOWITZ SYNDROME acute lymphatic leukemia|C0023449 leukemia|C0023418 neuroblastoma|C0027819 lymphoma|C0024299 lymphatic leukemia|C0023448 314 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE DDSH morphology|C0700329 315 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA cysts|C0010709 316 226400 EPIDERMODYSPLASIA VERRUCIFORMIS EV EVER epidermodysplasia verruciformis|C0014522 basal cell carcinoma|C0205641 verrucae|C0043037 317 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE EBR1 RDEB squamous cell carcinoma|C0007137 318 226990 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY ebv infection|C0149678 319 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C FANCC FACC FAC FANCONI PANCYTOPENIA, TYPE 3 FA3 leukemia|C0023418 320 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 FANCD2 FAD2 FANCONI ANEMIA, COMPLEMENTATION GROUP D FANCD FACD FANCONI PANCYTOPENIA, TYPE 4 FA4 leukemia|C0023418 321 227660 FANCONI ANEMIA, COMPLEMENTATION GROUP B FANCB FACB FANCONI PANCYTOPENIA, TYPE 2 FA2 leukemia|C0023418 322 227850 FANCONI-LIKE SYNDROME malignancies|C0006826 323 228300 FERTILE EUNUCH SYNDROME morphology|C0700329 324 228600 FIBROMATOSIS, JUVENILE HYALINE PURETIC SYNDROME, INCLUDED HYALINOSIS, SYSTEMIC JUVENILE, INCLUDED tumors of lip|C0023761 325 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES cystic kidneys|C0022679 326 229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING FOLATE MALABSORPTION, HEREDITARY ganglion|C0085648 327 229230 FRASER-LIKE SYNDROME FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES cyst|C0010709 ovarian cyst|C0029927 328 229400 FRONTOFACIONASAL DYSOSTOSIS FRONTOFACIONASAL DYSPLASIA lipoma|C0023798 dermoid|C0011649 329 229850 FRYNS SYNDROME FRNS DIAPHRAGMATIC HERNIA, ABNORMAL FACE, AND DISTAL LIMB ANOMALIES cysts|C0010709 330 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I BETA-GALACTOSIDASE-1 DEFICIENCY GLB1 DEFICIENCY GALACTOSIDASE, BETA-1, INCLUDED GLB1, INCLUDED MORQUIO DISEASE, TYPE B, INCLUDED MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED MPS IVB, INCLUDED ELASTIN-BINDING PROTEIN, INCLUDED angiokeratoma|C0002985 331 230650 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE angiokeratoma|C0002985 332 231060 GENITOPALATOCARDIAC SYNDROME GARDNER-SILENGO-WACHTEL SYNDROME MALE PSEUDOHERMAPHRODITISM WITH MICROGNATHIA, CLEFT PALATE, AND CONOTRUNCAL CARDIAC DEFECT cystic kidneys|C0022679 333 231090 HYDATIDIFORM MOLE HYDM GESTATIONAL TROPHOBLASTIC DISEASE mole|C0349514 hydatidiform mole|C0020217 334 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA GHDD refractory anemia|C0002894 335 231100 GIANT CELL HEPATITIS, NEONATAL IDIOPATHIC NEONATAL HEMOCHROMATOSIS, INCLUDED HEMOCHROMATOSIS, NEONATAL, INCLUDED hepatic cancer|C0345904 336 231675 GLUTARICACIDURIA IIC GA IIC GLUTARICACIDEMIA IIC ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE DEFICIENCY ELECTRON TRANSFER FLAVOPROTEIN cysts|C0010709 polycystic kidneys|C0085548 337 231680 GLUTARICACIDURIA IIA GA IIA GLUTARICACIDEMIA IIA ETHYLMALONIC-ADIPICACIDURIA EMA MULTIPLE ACYL-C cysts|C0010709 polycystic kidneys|C0085548 338 232220 GLYCOGEN STORAGE DISEASE I hepatocellular carcinoma|C0345904 339 232240 GLYCOGEN STORAGE DISEASE I hepatocellular carcinoma|C0345904 angioma|C0018916 hepatoblastoma|C0206624 adenomas|C0001430 340 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES spinal tumor|C0037930 341 234820 HEMANGIOPERICYTOMA, MALIGNANT hemangiopericytoma|C0018922 malignant hemangiopericytoma|C0334542 342 235200 HEMOCHROMATOSIS HFE HLAH HEMOCHROMATOSIS, HEREDITARY HH HEMOCHROMATOSIS GENE, INCLUDED HFE GENE, INCLUDED hepatocellular carcinoma|C0345904 343 236000 HODGKIN LYMPHOMA HODGKIN DISEASE hodgkin disease|9650/3 344 236200 HOMOCYSTINURIA CYSTATHIONINE BETA-SYNTHASE DEFICIENCY CBS DEFICIENCY CYSTATHIONINE BETA-SYNTHASE, INCLUDED CBS, INCLUDED HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE, INCLUDED psychiatric disorders|C0004936 345 236800 HYDROXYKYNURENINURIA XANTHURENICACIDURIA KYNURENINASE DEFICIENCY viral illness|C0042769 346 240500 COMMON VARIABLE IMMUNODEFICIENCY CVID COMMON VARIABLE HYPOGAMMAGLOBULINEMIA HYPOGAMMAGLOBULINEMIA, ACQUIRED IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET lymphomas|C0024299 347 241800 HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED CHHS, INCLUDED hamartoma|C0018552 glioma|C0555198 348 242650 PRIMARY CILIARY DYSKINESIA PCD CILIARY DYSKINESIA, PRIMARY IMMOTILE CILIA SYNDROME ICS POLYNESIAN BRONCHIECTASIS polyps|C0032584 nasal polyps|C0027430 349 242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES respiratory disease|C0035242 polyps|C0032584 nasal polyps|C0027430 350 242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA polyps|C0032584 nasal polyps|C0027430 351 242880 IMMUNOERYTHROMYELOID HYPOPLASIA lymphoproliferative disorder|9970/1 352 243910 JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA cysts|C0010709 353 246200 LEPRECHAUNISM DONOHUE SYNDROME INSULIN RECEPTOR, DEFECT IN, INCLUDED ovarian granulosa cell tumor|C0018206 granulosa cell tumor|C0018206 354 246400 LETTERER-SIWE DISEASE L-S DISEASE LESD HISTIOCYTOSIS X, ACUTE DISSEMINATED histiocytosis x|C0023381 355 246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER leukemia|C0023418 acute myeloblastic leukemia|C0677622 myeloblastic leukemia|C0023479 adenocarcinoma|C0007097 polyps|C0032584 bladder tumor|C0005695 colon polyps|C0009376 356 246550 LICHTENSTEIN SYNDROME cyst|C0010709 357 247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES LALL LYMPHOMATOUS ALL lymphoblastic leukemia|9835/3 leukemia|C0023418 neoplasm|C0036210 acute lymphoblastic leukemia|9835/3 358 248100 MACROSOMIA ADIPOSA CONGENITA adrenocortical adenoma|C0206667 adenoma|C0001430 359 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL BETA-MANNOSIDOSIS MANB1 BETA-MANNOSIDASE DEFICIENCY MANNOSIDOSIS, BETA MANNOSIDASE, BETA A, LYSOSOMAL, INCLUDED MANBA, INCLUDED angiokeratoma|C0002985 360 248900 MAST SYNDROME ganglion|C0085648 361 248910 MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA mastocytosis|C0024899 cutaneous mastocytosis|C1136033 362 249000 MECKEL SYNDROME, TYPE 1 MKS1 MECKEL SYNDROME MKS MES DYSENCEPHALIA SPLANCHNOCYSTICA GRUBER SYNDROME MECKEL-GRUBER SYNDROME polycystic kidneys|C0085548 363 249400 MELANOSIS, NEUROCUTANEOUS pigmented nevi|C0027962 melanocytic nevi|C0027962 melanoma|C0025202 nevi|C0027960 364 250250 CARTILAGE-HAIR HYPOPLASIA CHH METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE malignancy|C0006826 neoplasm|C0036210 lymphoma|C0024299 skin neoplasm|C0037286 365 250650 METHANE PRODUCTION colon cancer|C0007102 366 251260 NIJMEGEN BREAKAGE SYNDROME NBS ATAXIA-TELANGIECTASIA VARIANT V1 AT-V1 MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES SEEMANOVA SYNDROME II NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY lymphoma|C0024299 medulloblastoma|C0025149 glioma|C0555198 rhabdomyosarcoma|C0035412 367 251505 MICROPHTHALMIA WITH COLOBOMATOUS CYST cyst|C0010709 368 252270 MONOSOMY 7 OF BONE MARROW MYELODYSPLASIA AND LEUKEMIA SYNDROME WITH MONOSOMY 7 MLSM7 leukemia|C0023418 acute myelogenous leukemia|C0677622 myelodysplasia|C0033027 myelogenous leukemia|C0023476 369 252500 MUCOLIPIDOSIS II ML II I-CELL DISEASE ICD hemangioma|C0018916 cavernous hemangioma|C0752160 370 253250 MULIBREY NANISM MUSCLE-LIVER-BRAIN-EYE NANISM PERICARDIAL CONSTRICTION AND GROWTH FAILURE PERHEENTUPA SYNDROME wilms tumor|C0027708 nevi|C0027960 371 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 LCCS LCCS1 MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE lccs|C0019204 372 255960 MYXOMA, INTRACARDIAC ATRIAL MYXOMA, FAMILIAL atrial myxoma|C0151241 myxoma|C0027149 373 256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS MESANGIAL SCLEROSIS, FAMILIAL MESANGIAL SCLEROSIS, DIFFUSE DMS MESANGIAL SCLEROSIS, ISOLATED DIFFUSE IDMS wilms tumor|C0027708 374 256450 NESIDIOBLASTOSIS OF PANCREAS HYPERINSULINISM, AUTOSOMAL RECESSIVE HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY PHHI HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY DUE TO FOCAL ADENOMATOUS HYPERPLASIA, INCLUDED adenoma|C0001430 islet cell adenoma|C0022134 375 256520 NEU-LAXOVA SYNDROME NLS cyst|C0010709 376 256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY GOLDBERG SYNDROME GALACTOSIALIDOSIS GSL NEURAMINIDASE hemangiomas|C0018916 377 256700 NEUROBLASTOMA NB NEUROBLASTOMA SUPPRESSOR, INCLUDED NBS, INCLUDED neurofibroma|C0027830 neuroblastomas|C0027819 neuroblastoma|C0027819 ganglioneuroma|C0017075 378 257350 NUCHAL BLEB, FAMILIAL CYSTIC HYGROMA, FETAL FCH hygroma|C0206620 cystic hygroma|C0206620 379 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION CROSS SYNDROME KRAMER SYNDROME cyst|C0010709 380 258865 ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES OFD SYNDROME VIII OROFACIODIGITAL SYNDROME WITH RETINAL ABNORMALITIES hamartoma|C0018552 381 259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC retinoblastoma|C0035335 osteogenic sarcoma|C0279603 sarcoma|C0036213 382 259550 OSTEOID OSTEOMA osteoid osteoma|C0029441 osteoma|C0029440 383 259650 OSTEOMA OF MIDDLE EAR osteoma|C0029440 384 259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS GUIBAUD-VAINSEL SYNDROME CARBONIC ANHYDRASE II DEFICIENCY MARBLE BRAIN DISEASE CARBONIC ANHYDRASE II, INCLUDED CA2, INCLUDED CA II, INCLUDED CARBONIC ANHYDRASE II, ERYTHROCYTE, ELECTROPHORETIC VARIANTS OF, INCLUDED CARBONIC ANHYDRASE B, INCLUDED ganglion|C0085648 385 260350 PANCREATIC CARCINOMA PANCREATIC ACINAR CARCINOMA pancreatic carcinoma|C0346647 386 260400 SHWACHMAN-DIAMOND SYNDROME SDS PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION SHWACHMAN-BODIAN SYNDROME LIPOMATOSIS OF PANCREAS, CONGENITAL leukemia|C0023418 acute myelogenous leukemia|C0677622 myelodysplasia|C0033027 myelogenous leukemia|C0023476 387 260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA choroid plexus papilloma|C0205770 papilloma|C0030354 388 261000 PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR GASTRIC INTRINSIC FACTOR, INCLUDED GIF, INCLUDED morphology|C0700329 389 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES MENDENHALL SYNDROME RABSON-MENDENHALL SYNDROME ovarian tumor|C0919267 390 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS cysts|C0010709 polycystic kidney|C0085548 391 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE ARPKD POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PKHD1 POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL, INCLUDED CAROLI DISEASE, INCLUDED RENAL-HEPATIC-PANCREATIC DYSPLASIA, INCLUDED cysts|C0010709 cystic kidneys|C0022679 pancreatic cysts|C0030283 392 263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA polycystic kidneys|C0085548 393 263300 POLYCYTHEMIA VERA PV POLYCYTHEMIA RUBRA VERA PRV polycythemia vera|C0032463 394 263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II SRPS, TYPE II MAJEWSKI SYNDROME POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II cysts|C0010709 polycystic kidneys|C0085548 395 263530 SHORT RIB-POLYDACTYLY SYNDROME, TYPE I SRPS, TYPE I SALDINO-NOONAN SYNDROME POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I polycystic kidneys|C0085548 396 265120 PULMONARY ALVEOLAR PROTEINOSIS PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, INCLUDED malignancy|C0006826 lymphoma|C0024299 hematologic malignancy|C0376545 397 267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM PERLMAN SYNDROME NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR wilms tumor|C0027708 hamartomas|C0018552 398 267010 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST GOLDSTON SYNDROME cyst|C0010709 399 267730 RETICULUM CELL SARCOMA reticulum cell sarcoma|C0024302 sarcoma|C0036213 400 268210 RHABDOMYOSARCOMA 1 RMS1 RHABDOMYOSARCOMA, EMBRYONAL, 1 RMSE1 RHABDOMYOSARCOMA CHROMOSOMAL REGION RMSCR embryonal rhabdomyosarcoma|8910/3 rhabdomyosarcoma|C0035412 401 268220 RHABDOMYOSARCOMA 2 RMS2 RHABDOMYOSARCOMA, ALVEOLAR RMSA alveolar rhabdomyosarcoma|C0206655 rhabdomyosarcoma|C0035412 402 268300 ROBERTS SYNDROME RBS LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE hemangioma|C0018916 capillary hemangioma|C0206733 hygroma|C0206620 cystic hygroma|C0206620 polycystic kidney|C0085548 morphology|C0700329 403 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY COVESDEM SYNDROME, FORMERLY nevus|C0027960 404 268400 ROTHMUND-THOMSON SYNDROME RTS POIKILODERMA ATROPHICANS AND CATARACT squamous cell carcinoma|C0007137 basal cell carcinoma|C0205641 osteogenic sarcoma|C0279603 sarcoma|C0036213 405 268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBULAR LUNG SMITH-LEMLI-OPITZ SYNDROME, TYPE II SLO SYNDROME, TYPE II LETHAL ACRODYSGENITAL SYNDROME cysts|C0010709 406 269000 SC PHOCOMELIA SYNDROME SC-