Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Parakeratosis, Villous atrophy, Recu... |
OMIM:256500 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Gonadoblastoma |
|
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... |
ORPHA:206484 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteosarcoma |
OMIM:601811 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm,... |
ORPHA:166113 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarrhea, Bronchi... |
OMIM:619445 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Hamartoma |
ORPHA:139414 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Woolly hair, Diarrhea, Chronic diarrhea, Bloody diar... |
OMIM:614602 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... |
OMIM:615821 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism, Delayed puberty |
ORPHA:2297 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm |
ORPHA:2221 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Nail dystroph... |
ORPHA:100976 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Parana Hard Skin Syndrome |
|
Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism |
ORPHA:2812 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu... |
OMIM:607626 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Follicular hyperkeratosis, Alop... |
ORPHA:69125 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Furrowed tongue, Nail dystrophy, Ge... |
OMIM:614204 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism |
OMIM:136680 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Skin rash, Diffuse alveolar hemorrhage, Secretory diarrhea, Enter... |
OMIM:616050 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Neoplasm, Neoplasm of the skin |
ORPHA:315 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... |
ORPHA:284426 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis |
ORPHA:83453 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Abnormal lung morphology, Hyper... |
ORPHA:182 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Hepatic fib... |
OMIM:602579 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Carcinoma, Squamous cell carcinoma, Palmoplantar keratoderma, Nail dystrophy, Foll... |
OMIM:615225 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, C... |
ORPHA:398124 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Aquagenic Palmoplantar Keratoderma |
|
Recurrent sinopulmonary infections, Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palm... |
ORPHA:498359 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:277700 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Eczema, Chronic diarrhea, Growth delay, Vomiti... |
OMIM:619510 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus |
OMIM:618084 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Disseminated cutaneous warts, Pericardia... |
ORPHA:90362 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma |
OMIM:614328 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Fanconi Anemia, Complementation Group S |
|
Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... |
ORPHA:370348 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm... |
ORPHA:454 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Microvillus Inclusion Disease |
|
Villous atrophy, Pruritus, Diarrhea, Dehydration, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Hepatitis, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the ora... |
ORPHA:525 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea... |
OMIM:246700 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Nasal polyposis, Acne, Pustule, Thickened skin, Hyperkeratosis,... |
ORPHA:530 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... |
ORPHA:398063 |
Mednik Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis, Ichthyosis |
ORPHA:171851 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Eczema, Chronic diarrhea, Ileus, Hepatitis, Erythroderma |
OMIM:304790 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hyperkeratosis, Ichth... |
ORPHA:281090 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Chronic oral candidia... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Lymphoproliferative disord... |
OMIM:614700 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Microves... |
OMIM:619377 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Villous atrophy, Chronic oral candidiasis, Short stature, Eczem... |
OMIM:614162 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... |
ORPHA:1333 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Lymphoma, Growth dela... |
ORPHA:100025 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Short stature, Hyperkeratosis, Mild intrauterine growth retardation, Con... |
OMIM:308050 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seb... |
ORPHA:83617 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis, Ichthyosis |
ORPHA:209981 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... |
ORPHA:249 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowe... |
ORPHA:1839 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Brain neoplasm, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Prostate cancer, Adenocarci... |
ORPHA:79501 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Villous atrophy |
OMIM:600955 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dy... |
OMIM:616029 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, B-cell lymphoma, Burkitt lymphoma |
OMIM:620232 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Genera... |
ORPHA:3019 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis,... |
ORPHA:317 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Rothmund-Thomson Syndrome Type 1 |
|
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Hypogona... |
ORPHA:221008 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Diamond-Blackfan Anemia 21 |
|
Osteosarcoma |
OMIM:620072 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... |
OMIM:619991 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis |
ORPHA:494 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Cutaneous T-cell lymphoma, Pruritus, Lymphoma, ... |
ORPHA:2584 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Short stature, Curly hair, Polyhydramnios, Large pla... |
OMIM:222470 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Ulerythema Ophryogenesis |
|
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
Rothmund-Thomson Syndrome Type 2 |
|
Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma... |
ORPHA:221016 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Brittle hair, Gastritis, Short stature, Hepatoblastoma, Hypopigmen... |
ORPHA:84064 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Sclerodactyly |
OMIM:212360 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Cholelithiasis, Jaundice |
OMIM:224100 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... |
ORPHA:480536 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Macular degeneration, ... |
ORPHA:1573 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Nonimmune hydrops fetalis, Edema, P... |
OMIM:212065 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Short stature |
ORPHA:2574 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:618625 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Follicular hyperkeratosis, C... |
OMIM:615147 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Hyperkeratosis, Macular degeneration, Ichthyo... |
ORPHA:816 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Rod-cone dystrophy, Alopecia of scalp |
OMIM:136300 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Os... |
OMIM:268400 |
Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Neurofibroma |
ORPHA:79100 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Oropharyngeal squam... |
ORPHA:391487 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Hepatomegaly, Elevate... |
OMIM:619573 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Severe short stature, Bilateral cryptorchidism, Optic atrophy, Melanoma |
OMIM:278800 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Esophageal varix, Optic atrophy, C... |
OMIM:614576 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Optic atrophy, Dysphagia, Hyperkeratosis, Ichthyosis, Hype... |
OMIM:612379 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Hydroce... |
OMIM:620014 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Malabsorption, Chronic diarrh... |
OMIM:601675 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess... |
ORPHA:100079 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... |
OMIM:557000 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcinoma, Palmoplantar keratoderma, ... |
OMIM:224750 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Alpha-Thalassemia |
|
Myelodysplasia, Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, High palate, Gastroesophageal reflux, Follicula... |
ORPHA:486815 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Rhizomelia, Pericardial effusion, Diarrhea, Abnormal lung lobation... |
ORPHA:79328 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... |
ORPHA:312 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
ORPHA:89843 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Myelodysplasia, Adenocarcinoma of the colon, Malignant genit... |
ORPHA:124 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Atypical Werner Syndrome |
|
Renal neoplasm, Hepatic steatosis, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm... |
ORPHA:79474 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Dowling-Degos Disease |
|
Pruritus, Keratoacanthoma, Hyperkeratosis, Anal margin squamous cell carcinoma, Hyperkeratotic pa... |
ORPHA:79145 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Proteus Syndrome |
|
Lipoma, Hyperkeratosis, Hemangioma, Multiple lipomas |
OMIM:176920 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Pruritus, Erythroderma, Dehydration, Hyperkerato... |
ORPHA:313 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... |
OMIM:615237 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Basal cell carcinoma, Hyperkeratosis lenticularis perstans, Squamous cell carcinoma |
ORPHA:409 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, Bronchitis, Pneumonia, Skin rash, Recurrent skin infe... |
OMIM:619381 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis, Frontal upsweep o... |
OMIM:301220 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Cho... |
OMIM:277175 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... |
ORPHA:1414 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ov... |
ORPHA:276280 |
Apert Syndrome |
|
Ovarian neoplasm |
ORPHA:87 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Astrocytoma, Neoplasm of the central nervous system, Hyperkeratosis, Retinopat... |
ORPHA:2611 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Ichthyosis |
ORPHA:461 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Diarrhea, Atopic d... |
ORPHA:2070 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... |
OMIM:613576 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Costello Syndrome |
|
Short stature, Polyhydramnios, Abnormal hair morphology, Cryptorchidism, Narrow palate, Macroglos... |
ORPHA:3071 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Cryptorchidism, Diarrhea, Cholestasis, Vomiting, Protein-losing enteropathy,... |
OMIM:608104 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hyperkeratosis, Optic atrophy, Lymphedema |
ORPHA:79279 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosi... |
ORPHA:457 |
Alg6-Cdg |
|
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Rod-cone dystrophy,... |
ORPHA:79320 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Hepatic failure, Dysphagia, Hepatospleno... |
OMIM:608013 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Thickened skin, Ocular albi... |
ORPHA:79430 |
Noonan Syndrome 8 |
|
Curly hair, Short stature, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Pleural effusion |
OMIM:615355 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, A... |
ORPHA:79452 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follic... |
OMIM:616295 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alopec... |
OMIM:608649 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Gastroesophageal reflux |
ORPHA:36386 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Solitary Fibrous Tumor |
|
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... |
ORPHA:2126 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Diarrhea, Vomiting, Protei... |
ORPHA:79319 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma |
OMIM:617100 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Follicular hyperkeratosis |
OMIM:617066 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Spontaneous pneumothorax, Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Protein-losing... |
OMIM:618154 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Recurrent respiratory infections, Hepatomegaly, Pruritus, Cr... |
ORPHA:742 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongu... |
OMIM:148210 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Hypergranulosis, Abnormal hair morphology, Growth delay, Hyperkeratosis, Congenital ich... |
OMIM:242100 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk... |
OMIM:613707 |
Pachyonychia Congenita |
|
Alopecia, Steatocystoma multiplex, Linear arrays of macular hyperkeratoses in flexural areas, Pal... |
ORPHA:2309 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Pruritus, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice,... |
OMIM:601847 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair |
ORPHA:1883 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Short stature, Skin rash, Edema, Sparse eyebrow, Recurrent bronchopulmona... |
OMIM:604173 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondr... |
OMIM:620189 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Protein-losing enteropathy |
OMIM:613502 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... |
ORPHA:1809 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... |
ORPHA:2269 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Spherocytosis, Type 1 |
|
Splenomegaly, Cholelithiasis, Jaundice |
OMIM:182900 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma |
OMIM:612591 |
Reactive Arthritis |
|
Abnormal pleura morphology, Pustule, Diarrhea, Hyperkeratosis, Inflammation of the large intestin... |
ORPHA:29207 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... |
OMIM:261515 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyp... |
ORPHA:79431 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Lymphedema, High palate, Sparse hair, Dystrophic fingernails, Short stature, Abnorm... |
ORPHA:1340 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Hypercholanemia, Familial 1 |
|
Pruritus, Fat malabsorption, Steatorrhea |
OMIM:607748 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, P... |
OMIM:175500 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Donohue Syndrome |
|
Postnatal growth retardation, Cholestasis, Hyperkeratosis, Ovarian cyst, Hepatic fibrosis, Acanth... |
OMIM:246200 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... |
ORPHA:744 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Short stature |
OMIM:615279 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous c... |
OMIM:158310 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... |
ORPHA:79327 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Short stature, Retinal dystrophy, Eczema, Pancreatic steatosis, Cryptorch... |
OMIM:617052 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonad... |
ORPHA:273 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Short stature, Recurrent skin infections, Pruritus, Abnormal tongue morphology, Chro... |
ORPHA:158668 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Short stature, Eosinophilia, Maculopapular... |
OMIM:308300 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, High anterior hairline, Hyperkeratosis, Dysphagia, Achalasia |
OMIM:615510 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Hyperkeratosis, Aplasia/Hypoplasia... |
ORPHA:238468 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis |
ORPHA:254478 |
Sialidosis Type 1 |
|
Retinopathy, Hyperkeratosis, Cherry red spot of the macula, Short stature |
ORPHA:812 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Palmoplantar keratode... |
OMIM:308800 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Polyhydramnios, Absent eyelashes, S... |
OMIM:115150 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Hyper... |
OMIM:610768 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Skin rash, Pustule, Hyperkeratosis, Joint swelling, Pulmonary fibrosis, Stomatitis |
OMIM:612852 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... |
ORPHA:1005 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Intrauterine growth retardation, Rhizomelia, Short stature |
ORPHA:163966 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... |
ORPHA:100086 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Diarrh... |
ORPHA:71 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Sparse eyebrow,... |
OMIM:257980 |
Scedosporiosis |
|
Unusual skin infection, Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis, Ab... |
ORPHA:449280 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, F... |
OMIM:615726 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma... |
ORPHA:2908 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Optic atrophy, Erythroderma |
OMIM:609180 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Noonan Syndrome 2 |
|
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nuchal trans... |
OMIM:605275 |
Ramon Syndrome |
|
Optic disc pallor, Short stature, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Pigmentar... |
OMIM:266270 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Short stature, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Incontinentia Pigmenti |
|
Retinal detachment, Alopecia, Abnormal chorioretinal morphology, Short stature, Eosinophilia, Ski... |
ORPHA:464 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma |
ORPHA:493 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Recurrent lower respiratory tract infections, High palate, Follicular hyperkeratosis |
OMIM:254090 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Nonimmune hydrops fetalis, Sparse e... |
OMIM:137940 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Hyperkeratosis, Interstitial pneumonitis, Vomiting |
ORPHA:454831 |
Noonan Syndrome 10 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Hyperke... |
OMIM:616564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Eczema, Polyhydramnios, Cryptorchidism, Hyperkerato... |
OMIM:607721 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Neonatal death, Dystrophic fingernails, Subungual hyperkeratos... |
OMIM:308205 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Skin rash, Pruritus, Hepatitis, Hyperkeratosis |
ORPHA:1334 |
Leprechaunism |
|
Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Thickened sk... |
ORPHA:508 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Cryp... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... |
OMIM:175200 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary ... |
OMIM:235255 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Fine hair |
ORPHA:1028 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Short stature, Trichiasis, Cleft palate, Hyperkeratosis, Trichodysplasia |
OMIM:601701 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Fabry Disease |
|
Short stature, Malabsorption, Lymphedema, Emphysema, Optic atrophy, Hyperkeratosis, Delayed puber... |
ORPHA:324 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess |
ORPHA:436252 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Whim Syndrome |
|
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... |
ORPHA:51636 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Hypereosinophilia, Palmoplantar hyperkeratosis, Growth delay, Follicular hyperkerat... |
OMIM:617388 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangie... |
ORPHA:1655 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dys... |
OMIM:610644 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hypoplasia of the small int... |
OMIM:200995 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Precocious puberty, Cardiac rhabdomyoma |
OMIM:618971 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Diarrhea, Rectal prolapse, Adeno... |
ORPHA:79076 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Slow-growing hair, Sparse e... |
ORPHA:1896 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Cryptorchidism, Low anterior hairline, Low posterior hairline, Macro... |
OMIM:618440 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Short stature |
OMIM:616298 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Chime Syndrome |
|
Cleft palate, Acute leukemia, Fine hair, Hyperkeratosis, Retinal coloboma, Ichthyosis, Sparse hair |
ORPHA:3474 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infection... |
OMIM:618183 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Sparse scalp hair, Absence of Stensen duct, Decreased response ... |
OMIM:129900 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone s... |
OMIM:604292 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Tyrosinemia Type 2 |
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Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Multiple Osteochondromas |
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Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses |
ORPHA:321 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia |
OMIM:615272 |
Xeroderma Pigmentosum |
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Alopecia, Short stature, Cryptorchidism, Thickened skin, Optic atrophy, Hyperkeratosis, Melanoma,... |
ORPHA:910 |
Premature Aging Syndrome, Penttinen Type |
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Thickened skin, Hypermyelinated retinal nerve fibers, Palmoplantar hyperkeratosis, Corneal stroma... |
OMIM:601812 |
Congenital Tracheal Stenosis |
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Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormal lung morphology, Abnormal lu... |
ORPHA:141127 |
Primary Biliary Cholangitis |
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Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... |
ORPHA:186 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Lymphatic Filariasis |
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Predominantly lower limb lymphedema, Lymphedema, Orchitis, Abnormal lung morphology, Hypereosinop... |
ORPHA:2035 |
Restrictive Dermopathy 1 |
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Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... |
OMIM:275210 |
Mycetoma |
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Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Visceral Myopathy 1 |
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Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Polyhydramnios, Diarrhea, Vo... |
OMIM:155310 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
Sickle Cell Disease |
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Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Tarp Syndrome |
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Abnormal hair pattern, Cryptorchidism, Optic atrophy, Cleft palate, Glossoptosis, Pulmonary hypop... |
ORPHA:2886 |
Bethlem Myopathy |
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Hyperkeratosis |
ORPHA:610 |
Pallister-Hall Syndrome |
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Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Hypospadias... |
ORPHA:672 |
Fucosidosis |
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Hepatomegaly, Abnormality of the gallbladder, Generalized hyperkeratosis |
ORPHA:349 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Esophageal atresia, Pulmonary ... |
OMIM:265380 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Alopecia, Severe short stature, Aganglionic megacolon, Eczema, ... |
ORPHA:2273 |
Glycogen Storage Disease Xii |
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Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Hereditary Elliptocytosis |
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Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice |
ORPHA:288 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Neoplasm of the adrenal cortex, Visceral angiomatosis, Lymphoma, Hamartomatous polyposis, Neoplas... |
ORPHA:109 |
Warburg-Cinotti Syndrome |
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Retinal dystrophy, Pneumothorax, Joint swelling, High palate, Follicular hyperkeratosis, Choleste... |
OMIM:618175 |
Trichorhinophalangeal Syndrome, Type Ii |
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Osteochondroma, Bilateral cryptorchidism, Hydrometrocolpos, Osteoma, Rib exostoses, Scapular exos... |
OMIM:150230 |
Metachromatic Leukodystrophy |
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Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Recurrent respiratory infections, Alopecia, Eczema, Testicular neoplasm, Spina bifida, Postnatal ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Recurrent respiratory infections, Alopecia, Eczema, Testicular neoplasm, Spina bifida, Postnatal ... |
ORPHA:363958 |
Generalized Pseudohypoaldosteronism Type 1 |
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Cholelithiasis |
ORPHA:171876 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Gastrointestinal hemorrhage, Retinal detachment, Recurrent pneumonia, Follicular hyperkeratosis |
OMIM:225400 |
Hereditary Spherocytosis |
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Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... |
OMIM:210710 |
Triosephosphate Isomerase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Umbilical hernia, Polyhydramnios, Cleft soft palate, Follicular hyperkeratosis |
OMIM:614557 |
Hereditary Hemorrhagic Telangiectasia |
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Portal hypertension, Visceral angiomatosis, Cavernous hemangioma, Cholecystitis, Cirrhosis, Chole... |
ORPHA:774 |
Dehydrated Hereditary Stomatocytosis |
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Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Retinal detachment, Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchid... |
OMIM:601776 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Cholelithiasis |
OMIM:618775 |
6Q Terminal Deletion Syndrome |
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Highly arched eyebrow, Hyperkeratosis, Low anterior hairline, High, narrow palate |
ORPHA:75857 |
Distal Duplication 5Q |
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Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cholelithiasis, Decreased testicular size, Cryptorchidism |
OMIM:300534 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis, Lymphedema |
ORPHA:79280 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Short stature, Synophrys, High palate, Follicular hyperkeratosis, Umbilical hernia |
ORPHA:536545 |
Leprosy |
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Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Hyperkeratosis, Abnormality of the ... |
ORPHA:548 |
Kanzaki Disease |
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Hyperkeratosis, Lymphedema |
OMIM:609242 |
Trichohepatoneurodevelopmental Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... |
OMIM:618268 |
Fraser Syndrome 1 |
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Encephalocele, Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchid... |
OMIM:219000 |
8P Inverted Duplication/Deletion Syndrome |
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Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus |
OMIM:619480 |
Porphyria, Congenital Erythropoietic |
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Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
OMIM:263700 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis |
OMIM:213700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Nephroblastoma, Medulloblastoma, Annular pancreas |
ORPHA:97297 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis |
ORPHA:464738 |
Trisomy 8P |
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Cryptorchidism, Neuroblastoma, Annular pancreas, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Neoplasm, Hypoplastic nipples |
ORPHA:480880 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... |
ORPHA:2255 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, Cholelithiasis |
ORPHA:567 |
Digeorge Syndrome |
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Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... |
OMIM:188400 |
Williams Syndrome |
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Cryptorchidism, Cholelithiasis, Polycystic ovaries |
ORPHA:904 |