| Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
| Darier Disease |
|
Plantar pits, Macule, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Acrokeratosis... |
ORPHA:218 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Keloids, Erythematous papule, Atrophic scars, Skin erosion, Atypical scarr... |
ORPHA:79410 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Milia, Hyperkeratosis |
OMIM:131800 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Epidermoid cyst, Palmar pits, Penile freckling, Erythematous papule, Digit... |
ORPHA:79145 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Congenital Panfollicular Nevus |
|
Verrucous papule, Skin nodule, Hyperkeratosis |
ORPHA:139414 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Erythematous plaque, Erythematous papule, Striae distensae, Parakeratosis, Palmoplantar erythema,... |
ORPHA:64745 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle |
ORPHA:90000 |
| Erythrokeratoderma ''En Cocardes'' |
|
Neoplasm of the skin, Neoplasm, Hyperkeratosis |
ORPHA:315 |
| Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis |
ORPHA:254478 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Erythema migrans, Skin vesicle, Parakeratosis |
ORPHA:158681 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Pemphigus Foliaceus |
|
Acantholysis, Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Serpiginous ... |
ORPHA:79481 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis |
OMIM:615728 |
| Porokeratosis |
|
Pruritus, Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79358 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis |
OMIM:270220 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Iga Pemphigus |
|
Acantholysis, Annular cutaneous lesion, Skin erosion, Skin plaque, Skin vesicle |
ORPHA:555905 |
| Dermatitis Herpetiformis |
|
Erythema, Macule, Skin vesicle |
ORPHA:1656 |
| Pyoderma Gangrenosum |
|
Atrophic scars, Papule, Skin ulcer, Skin vesicle |
ORPHA:48104 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:257 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis |
OMIM:101900 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Acquired Ichthyosis |
|
Multiple myeloma, Pruritus, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recurrent skin... |
ORPHA:454 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79503 |
| Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Neoplasm, Esophageal carcinoma, Parakeratosis |
OMIM:148500 |
| Dyskeratosis Congenita |
|
Hypopigmented skin patches, Macule, Abnormal morphology of female internal genitalia, Urethral st... |
ORPHA:1775 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Hypomelanotic macule, Papule, Hypermelanotic macule, Palmar hyperkeratos... |
ORPHA:79399 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Corneal erosion, Atrophic scars, Esophageal stricture, Gastrointestinal inflammation, Milia, Uret... |
ORPHA:79409 |
| Porphyria Variegata |
|
Hepatocellular carcinoma, Skin erosion, Milia, Localized skin lesion, Ileus, Skin vesicle |
ORPHA:79473 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Corneal scarring, Atrophic scars, Spontaneous esophageal perforation, Esophageal stric... |
OMIM:226600 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Parakeratosis |
OMIM:604117 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythematous plaque, Erythema, Palmoplantar keratosis with erythema and scale, Thin skin, Dermal ... |
ORPHA:158673 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Papule, Skin ulcer, Skin vesicle |
ORPHA:2314 |
| Hennekam-Beemer Syndrome |
|
High palate, Macule, Erythema, Papule, Subcutaneous nodule, Skin vesicle |
ORPHA:2135 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Nevus, Atrophic scars, Aplasia cutis congenita on trunk or limbs, Skin erosion, Milia, Hyperkerat... |
ORPHA:89838 |
| Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis |
OMIM:602723 |
| Chronic Graft Versus Host Disease |
|
Keratoconjunctivitis sicca, Abnormal esophagus physiology, Dysphagia, Abnormal vagina morphology,... |
ORPHA:99921 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Skin nodule, Erythematous plaque, Pyoderma gangrenosum, Eryt... |
ORPHA:3243 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin |
OMIM:181600 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Porokeratosis 1, Multiple Types |
|
Neoplasm of the skin, Parakeratosis |
OMIM:175800 |
| Bazex Syndrome |
|
Liposarcoma, Lung adenocarcinoma, Pruritus, Palmoplantar keratoderma, Neoplasm, Parakeratosis, Hy... |
ORPHA:166113 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Dysphagia, Esophageal furrows, Esophagitis, Abnormal peristalsis, Esophageal... |
ORPHA:411696 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... |
ORPHA:2198 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Barre... |
ORPHA:523 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Keratiti... |
ORPHA:1018 |
| Hereditary Mucoepithelial Dysplasia |
|
Abnormal morphology of female internal genitalia, Furrowed tongue, Corneal dystrophy, Anorectal a... |
ORPHA:1839 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Epidermolysis Bullosa Simplex 1A, Generalized Severe |
|
Atrophic scars, Palmoplantar hyperkeratosis, Milia |
OMIM:131760 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... |
OMIM:619208 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar keratoderma, Squamous cell carcinoma, Hyperkeratosis |
OMIM:602540 |
| Kindler Syndrome |
|
Spotty hypopigmentation, Dysphagia, Corneal erosion, Urethral stenosis, Symblepharon, Phimosis, D... |
OMIM:173650 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dysphagia, Corneal erosion, Nevus, Aplasia cutis congenita, Skin erosion, Ankyloglossia, Atypical... |
ORPHA:89842 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Palmoplantar keratoderma, Erythroderma, Hyperkeratosis |
ORPHA:312 |
| Localized Epidermolysis Bullosa Simplex |
|
Skin plaque, Erythematous papule, Atrophic scars, Skin erosion, Focal friction-related palmoplant... |
ORPHA:79400 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Palmoplantar hyperkeratosis, Milia |
OMIM:131900 |
| Familial Keratoacanthoma |
|
Adenoma sebaceum, Papilloma, Neoplasm, Hyperkeratosis |
ORPHA:493 |
| Pityriasis Rubra Pilaris |
|
Orthokeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:173200 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Narrow palate, Protruding tongue, Recurrent gastroenteritis, Skin vesicle |
ORPHA:99843 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
| Familial Multinodular Goiter |
|
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, Erythroderma, Parakeratosis |
OMIM:604777 |
| Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Congenital pyloric atresia, Atrophic scars, Aplasia cutis congenita, Esophageal atresia, Milia, A... |
OMIM:226730 |
| Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
| Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Neoplasm of the urethra, Abnormality of the anus,... |
ORPHA:2908 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
| Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis |
ORPHA:90368 |
| Non-Syndromic Posterior Hypospadias |
|
Ventral shortening of foreskin, Cleft palate, Bifid scrotum, Esophageal atresia, Anal atresia, Ur... |
ORPHA:95706 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Hypermelanotic macule, Palm... |
ORPHA:79397 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Macule, Stomach cancer, Gastrointestinal infarctions, Neoplasm of the rectum, Es... |
ORPHA:2869 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Sclerocornea, Esophageal atresia, Iris coloboma, Tracheoesophageal fistula, Cryptorc... |
ORPHA:77298 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
| Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy, Esophageal obstruction |
OMIM:150700 |
| Systemic Sclerosis |
|
Digital ulcer, Spotty hypopigmentation, Dysphagia, Abnormality of the small intestine, Abnormal l... |
ORPHA:90291 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ecchymosis, Hepatocellular carcinoma, Esophageal varix, Petechiae |
OMIM:619463 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
| Chikungunya |
|
Erythema, Macule, Petechiae, Skin vesicle |
ORPHA:324625 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:607936 |
| Barrett Esophagus |
|
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma |
OMIM:614266 |
| Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
| Noonan Syndrome 7 |
|
Dysphagia, Numerous nevi, Impaired oropharyngeal swallow response, Abnormal esophagus morphology |
OMIM:613706 |
| Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Inflammation of the large intestine, Esophageal varix, Hyperkeratosis |
OMIM:614576 |
| Aspergillosis |
|
Localized skin lesion, Abnormal esophagus morphology, Keratitis |
ORPHA:1163 |
| Fanconi Anemia, Complementation Group L |
|
Cleft palate, Esophageal atresia, Anal atresia, Micropenis, Tracheoesophageal fistula, Cafe-au-la... |
OMIM:614083 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis |
OMIM:612281 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Anal atresia, Iris coloboma, Vaginal atresia, Cataract, Cryptorchidism, Microc... |
ORPHA:3301 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
| Adams-Oliver Syndrome 6 |
|
Esophageal varix, Aplasia cutis congenita of scalp |
OMIM:616589 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Plummer-Vinson Syndrome |
|
Dysphagia, Esophageal web, Tongue atrophy, Glossitis, Pallor |
ORPHA:54028 |
| Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Rectovaginal fistula, Vesicovaginal fistula, Anal atresia, Vaginal atresia... |
OMIM:236700 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:618309 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
| Duplication Of Urethra |
|
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Anal atresia, Clitoral hypertrophy, Corona... |
ORPHA:237 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Intestinal atresia, Tracheoesophageal fistula |
ORPHA:93941 |
| Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79431 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Methimazole Embryofetopathy |
|
Hypospadias, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:1923 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Hypoplasia of penis, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:601427 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Anal atresia, Abnormality of the uterus, Tracheoesopha... |
ORPHA:59315 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Duodenal atresia, Preauricular skin tag, Esophageal atresia, Tracheoesophageal ... |
OMIM:619227 |
| Vacterl/Vater Association |
|
Hypospadias, Tracheal stenosis, Cleft palate, Bifid scrotum, Abnormal morphology of female intern... |
ORPHA:887 |
| Bronchogenic Cyst |
|
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
| Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Tracheal atresia |
OMIM:601612 |
| Septo-Optic Dysplasia Spectrum |
|
Cleft palate, Esophageal atresia, Tracheoesophageal fistula, Dry skin, Cryptorchidism, Hypoplasia... |
ORPHA:3157 |
| Stevens-Johnson Syndrome |
|
Dysphagia, Macule, Corneal erosion, Acantholysis, Erythema, Gastrointestinal hemorrhage, Esophage... |
ORPHA:36426 |
| Adams-Oliver Syndrome |
|
Esophageal varix, Aplasia cutis congenita, Gastrointestinal hemorrhage, Cataract, Aplasia/Hypopla... |
ORPHA:974 |
| Mckusick-Kaufman Syndrome |
|
High palate, Cleft palate, Ectopic anus, Aganglionic megacolon, Anal atresia, Urogenital sinus an... |
ORPHA:2473 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Verrucous papule, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of t... |
ORPHA:79501 |
| Budd-Chiari Syndrome |
|
Gastrointestinal infarctions, Esophageal varix, Malabsorption, Intestinal obstruction, Gastrointe... |
ORPHA:131 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Female external ge... |
ORPHA:251510 |
| Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Esophageal varix |
OMIM:616028 |
| Jung Syndrome |
|
Dry skin, Tracheal stenosis |
ORPHA:2321 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Hypospadias, Chordee, Esophageal ulceration, Cataract, Premature ovarian... |
OMIM:176690 |
| Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Popliteal pterygium, Cleft palate, Intercrural pterygium, Bifid scrotum... |
OMIM:119500 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Wolman Disease |
|
Steatorrhea, Esophageal varix |
ORPHA:75233 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Esophageal atresia, Hypogonadism, Micropenis, Tracheoesophageal fistula, Hyperg... |
OMIM:300514 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Currarino Syndrome |
|
Gastrointestinal obstruction, Rectovaginal fistula, Anal atresia, Perianal abscess, Bicornuate ut... |
OMIM:176450 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Peters anomaly |
OMIM:614526 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Palmoplantar hyperkeratosis, Urethral stricture |
OMIM:613989 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Hamartoma of tongue, Neonatal death, Uterus didelphys, Anal atresia, Micropenis, Es... |
OMIM:617925 |
| Mirage Syndrome |
|
Hypospadias, Petechiae, Decreased testicular size, Achalasia, Esophageal stricture, Hypergonadotr... |
OMIM:617053 |
| Vacterl With Hydrocephalus |
|
Esophageal atresia, Anal atresia, Abnormal fallopian tube morphology, Tracheoesophageal fistula, ... |
ORPHA:3412 |
| Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Hematocolpos |
OMIM:237100 |
| Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis |
OMIM:615726 |
| Glycogen Storage Disease Iv |
|
Esophageal varix |
OMIM:232500 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Gastrointestinal hemorrhage, Esophageal varix, Gastric varix |
ORPHA:64743 |
| Chops Syndrome |
|
Tracheal stenosis, Cryptorchidism, Gastroesophageal reflux, Cataract |
OMIM:616368 |
| Wilson Disease |
|
Dysphagia, Kayser-Fleischer ring, Esophageal varix, Hepatocellular carcinoma |
OMIM:277900 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Redundant neck skin, Abnormality of the uterus, Vaginal atresia, Micropenis, Abnorma... |
ORPHA:1655 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Hypogonadism, ... |
OMIM:209900 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Rectovaginal fistula, Esophagitis, Esophageal atresia, Intestinal... |
ORPHA:2538 |
| Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Benign Schwannoma |
|
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology |
ORPHA:252164 |
| Meacham Syndrome |
|
Abnormal vagina morphology, Hypoplasia of penis, Vaginal atresia, Ambiguous genitalia, Abnormal f... |
ORPHA:3097 |
| Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Bifid uvula, High palate, Esophageal atresia |
OMIM:618779 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Esophageal varix |
OMIM:263200 |
| Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Hypospadias, Aganglionic megacolon, Cleft palate, Bifid scrotum, Gastrointestin... |
OMIM:270400 |
| Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Hepatocellular adenoma, Esophageal varix, Hepatocellular carcinoma |
ORPHA:370 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Tracheal stenosis, Cleft palate, Redundant neck skin, Anteriorly placed anus, Crypto... |
OMIM:217980 |
| Apert Syndrome |
|
Ovarian neoplasm, Cleft palate, Ectopic anus, Corneal erosion, Esophageal atresia, Bifid uvula, N... |
ORPHA:87 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia |
OMIM:615272 |
| Trisomy 18 |
|
Cleft palate, Abnormal morphology of female internal genitalia, Esophageal atresia, Iris coloboma... |
ORPHA:3380 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
OMIM:278740 |
| Hurler-Scheie Syndrome |
|
Tracheal stenosis, Corneal opacity |
OMIM:607015 |
| Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Cleft palate, Abnormal morphology of female internal genitalia, Aplasia/Hypopl... |
ORPHA:1790 |
| Hydrolethalus |
|
Cleft palate, Bifid uvula, Abnormal fallopian tube morphology, Tracheal atresia, Cryptorchidism, ... |
ORPHA:2189 |
| Fryns Syndrome |
|
Hypospadias, Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel diverticulum, Bifid sc... |
OMIM:229850 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypopigmented skin patches, Tracheal stenosis, Multiple cafe-au-lait spots, Dry skin, Precocious ... |
ORPHA:2637 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
| Apert Syndrome |
|
Pyloric stenosis, Cleft palate, Ectopic anus, Esophageal atresia, Bifid uvula, Narrow palate, Vag... |
OMIM:101200 |
| Caroli Disease, Isolated |
|
Esophageal varix |
OMIM:600643 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dysphagia, Corneal erosion, Atrophic scars, Esophageal ulceration, Aplasia cutis congenita, Ankyl... |
ORPHA:79408 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Blue irides, Absence of Stensen duct, Cleft palate, Rectovaginal fistula, Xerostomia, Hypogonadot... |
OMIM:129900 |
| Coach Syndrome 1 |
|
Esophageal varix |
OMIM:216360 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Hepatocellular adenoma, Esophageal varix |
ORPHA:264580 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278720 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Cleft palate, Uterus didelphys, Vaginal atresia, Septate vagina |
ORPHA:2237 |
| Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Esophageal varix |
OMIM:278000 |
| Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis, Esophagitis |
ORPHA:3348 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis |
OMIM:140000 |
| Meacham Syndrome |
|
Neonatal death, Stillbirth, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudohermaphro... |
OMIM:608978 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix |
ORPHA:367 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Esophageal atresia, Micropenis, Tracheoesophageal fistula, Hypergonadotropic hypog... |
OMIM:227646 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Urethral atresia, Anal atresia, Absent external genitalia, Aplasia of the ... |
OMIM:271520 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Hypogonadotropic hypogonadism, Esophageal atresia, Micropenis, Cryptorchidism |
OMIM:206900 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preauricular skin tag, Cleft palate, Esophageal atresia |
OMIM:610536 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Esophageal ulceration, Gastric ulcer |
OMIM:618372 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Nevus, Redundant skin in infancy, Hydrometrocolpos |
OMIM:150230 |
| Keutel Syndrome |
|
Tracheal atresia, Dermal atrophy |
ORPHA:85202 |
| Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
| Classic Homocystinuria |
|
High palate, Esophageal varix, Ectopia lentis, Gastrointestinal hemorrhage, Cataract |
ORPHA:394 |
| Fraser Syndrome |
|
Hypospadias, Tracheal stenosis, Abnormal vagina morphology, High palate, Ectopic anus, Urethral a... |
ORPHA:2052 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Rectovaginal fistula, Urethrovaginal fistula, Malabsorption, Aplasia cutis congenita... |
OMIM:243800 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Pterygium, Urethral stenosis, Phimosis, Dermal atrophy, Esophageal stricture, Catara... |
OMIM:305000 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Bifid uvula |
OMIM:616258 |
| Tetraamelia Syndrome 1 |
|
Cleft palate, Urethral atresia, Hypoplasia of the fallopian tube, Anal atresia, Vaginal atresia, ... |
OMIM:273395 |
| Caroli Disease |
|
Conjunctival icterus, Esophageal varix, Cholangiocarcinoma |
ORPHA:53035 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Absence of Stensen duct, Cleft palate, Urethral stenosis, Xerostomia, Hypogonadotrop... |
OMIM:604292 |
| Chand Syndrome |
|
Cleft palate, Imperforate hymen, Bifid tongue, Dry skin, Commissural lip pit |
ORPHA:1401 |
| Cartilage-Hair Hypoplasia |
|
Malabsorption, Aganglionic megacolon, Esophageal atresia |
OMIM:250250 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Skin rash |
ORPHA:220295 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm |
OMIM:610651 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Pterygium, Oral leukoplakia, Nasolacrimal duct obstruction |
OMIM:224230 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Purpura, Skin ulcer, Esophageal varix, Urticarial plaque |
OMIM:615688 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ecchymosis, Gastric ulcer, Esophageal varix, Azoospermia, Corneal opacity, Skin ulcer |
ORPHA:2072 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Esophageal varix |
ORPHA:774 |
| Immunodeficiency 23 |
|
High palate, Esophageal stricture, Erythema |
OMIM:615816 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... |
ORPHA:90796 |
| Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
| Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
| Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79430 |
| Waardenburg Syndrome, Type 1 |
|
Heterochromia iridis, Hypoplastic iris stroma, Aplasia of the vagina, Blue irides |
OMIM:193500 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Keratitis, Skin ulcer, Conjunctivitis |
OMIM:608710 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Cleft palate, Meckel diverticulum, Duodenal atresia, Neonatal death, Congenital shor... |
OMIM:265380 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Fused labia minora, Hypoplastic labia majora, Vaginal atresia |
OMIM:207410 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin, Recurrent skin infections |
ORPHA:79396 |
| Feingold Syndrome 1 |
|
High palate, Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia |
OMIM:164280 |
| Caroli Syndrome |
|
Esophageal varix, Cholangiocarcinoma, Melena, Conjunctival icterus, Hematemesis |
ORPHA:480520 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Steatorrhea, Xanthomatosis, Esophageal varix |
ORPHA:275761 |
| Hardikar Syndrome |
|
Bilateral cleft lip and palate, Preauricular pit, Esophageal varix, Celiac disease, Cleft soft pa... |
OMIM:301068 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, High palate, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus,... |
OMIM:614527 |
| Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Hypospadias, Tracheal stenosis, Aganglionic megacolon, Cleft palate, Sclerocorn... |
ORPHA:818 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Cataract |
OMIM:302960 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Aplasia cutis congenita, Skin erosion, Esophageal stricture, Gastrointestinal inflammation, Ureth... |
ORPHA:79404 |
| Feingold Syndrome Type 1 |
|
Duodenal atresia, Gastrointestinal atresia, Esophageal atresia, Jejunal atresia, Anal atresia |
ORPHA:391641 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal stenosis, Gastroesophageal reflux, Cataract |
ORPHA:79345 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Vaginal atresia, Hydrometrocolpos |
OMIM:617088 |
| Fraser Syndrome 1 |
|
Hypospadias, Cleft palate, Abnormality of the small intestine, Abnormality of the anus, Clitoral ... |
OMIM:219000 |
| Microphthalmia, Syndromic 2 |
|
Hypospadias, Developmental cataract, Bifid uvula, Iris coloboma, Septate vagina, Cryptorchidism, ... |
OMIM:300166 |
| Distal Monosomy 12Q |
|
Pyloric stenosis, High, narrow palate, Unilateral cryptorchidism, Duodenal atresia, Microglossia,... |
ORPHA:96149 |
| Oculocutaneous Albinism |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:55 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Pyloric stenosis, Hypospadias, Cleft palate, Bifid scrotum, Iris coloboma, Micropenis, Septate va... |
ORPHA:261552 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ectopic anus, Urethrovaginal fistula, Esophageal atresia, Uterus didelphys, Anal atresia, Bifid t... |
ORPHA:93271 |
| Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Tracheal stenosis, High palate, Cleft palate, Bifid uvula, Cryptorchidism, Gast... |
OMIM:617137 |
| Oculocutaneous Albinism Type 2 |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79432 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pyloric stenosis, Hypospadias, Dysphagia, Cleft palate, Aganglionic megacolon, Bifid scrotum, Tra... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Pyloric stenosis, Hypospadias, Cleft palate, Bifid scrotum, Iris coloboma, Micropenis, Septate va... |
ORPHA:2152 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Esophageal varix, Small scrotum, Intestinal malrotation, Gastroesophageal reflux |
OMIM:613658 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dysphagia, High palate, Cutis laxa, Esophageal varix, Cleft soft palate, Unicornuate uterus, Eryt... |
OMIM:619503 |
| Larsen Syndrome |
|
Cleft palate, Cryptorchidism, Corneal opacity, Tracheal stenosis |
OMIM:150250 |
| Pallister-Hall Syndrome |
|
Hypospadias, Cleft palate, Aplasia/hypoplasia of the uterus, Small scrotum, Microglossia, Bifid u... |
ORPHA:672 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
| Congenital Tracheomalacia |
|
Gastroesophageal reflux, Cutis laxa, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:95430 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Esophageal varix, Cholangiocarcinoma, Hepatoblastoma, Gastrointestinal hemorrhage, Protein-losing... |
ORPHA:731 |
| Cartilage-Hair Hypoplasia |
|
Tracheal stenosis, Sacral dimple, Aganglionic megacolon, Malabsorption |
ORPHA:175 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Imperforate hymen, Anal atresia, Micropenis, Anal stenosis, Shawl scrotum |
OMIM:181450 |
| Charge Syndrome |
|
Dysphagia, Cleft palate, Duodenal atresia, Labial hypoplasia, Hypogonadotropic hypogonadism, Exte... |
OMIM:214800 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Squamous cell carcinoma of the skin |
OMIM:127550 |
| Senior-Boichis Syndrome |
|
Esophageal varix |
ORPHA:84081 |
| Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Tracheal stenosis |
OMIM:300712 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Basal cell carcinoma, Pulmonary carcinoid tumor, Squamous cell ca... |
ORPHA:363618 |
| Igg4-Related Thyroid Disease |
|
Sialadenitis, Dysphagia, Tracheal stenosis |
ORPHA:64744 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Tracheal stenosis, Cleft palate, Micropenis, Cryptorchidism |
ORPHA:163979 |
| Hepatocellular Carcinoma |
|
Abnormal rectum morphology, Esophageal varix |
ORPHA:88673 |
| Adams-Oliver Syndrome 1 |
|
Aplasia cutis congenita on trunk or limbs, Cleft palate, Imperforate hymen, Aplasia cutis congeni... |
OMIM:100300 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Tracheal stenosis, Abnormal vagina morphology, Cleft palate, Bifid uterus, Stillbirth |
OMIM:236680 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis |
ORPHA:93352 |
| Maternal Phenylketonuria |
|
High palate, Esophageal atresia |
ORPHA:2209 |
| Geleophysic Dysplasia 1 |
|
Tracheal stenosis, Lack of skin elasticity |
OMIM:231050 |
| Gabriele-De Vries Syndrome |
|
High palate, Lacrimal duct stenosis, Esophageal atresia, Oral-pharyngeal dysphagia, Astigmatism, ... |
ORPHA:506358 |
| Geleophysic Dysplasia 3 |
|
Tracheal stenosis |
OMIM:617809 |
| Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Cleft palate, Preauricular pit, Hypoplasia of the vagina, ... |
OMIM:261540 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Dysphagia, High palate, Imperforate hymen, Chordee, Urethral stricture, Cryptorchidi... |
OMIM:619522 |
| Vater/Vacterl Association |
|
Hypospadias, Tracheoesophageal fistula, Esophageal atresia, Anal atresia |
OMIM:192350 |
| Fraser Syndrome 3 |
|
Tracheal atresia |
OMIM:617667 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Neonatal death, Gastroesophageal reflux, Esophageal varix |
OMIM:619534 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Milia, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:69087 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Meningioma, Neoplasm, Patent ductus arteriosus, Spinal cord tumor, Pilomatrixoma |
ORPHA:353281 |
| Pallister-Killian Syndrome |
|
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Cleft palate, Macroglossia, Small s... |
OMIM:601803 |
| Alström Syndrome |
|
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Posterior subcapsular... |
ORPHA:64 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Meningioma, Patent ductus arteriosus |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Meningioma, Patent ductus arteriosus |
ORPHA:353277 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Palmoplantar keratoderma |
OMIM:161000 |
| Tetrasomy 9P |
|
Pilomatrixoma |
ORPHA:3310 |
| Dermatopathia Pigmentosa Reticularis |
|
Palmoplantar hyperkeratosis |
OMIM:125595 |
| Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
|
OMIM:601001 |
