Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Cowden Syndrome 7 |
|
Trichilemmoma, Goiter, Hemangioma, Papillary thyroid carcinoma, Breast carcinoma, Intestinal poly... |
OMIM:616858 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Infertility |
OMIM:300719 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Brittle hai... |
OMIM:614602 |
Angioma, Tufted |
|
Abnormality of skin pigmentation, Tufted angioma |
OMIM:607859 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Spotty hypopigmentation, Short stature, Freckling, Multiple cafe-au-l... |
ORPHA:241 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Hirsutism, Sertoli cell neoplasm, Gonadal neoplasm, Neoplasm of ... |
ORPHA:1359 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity |
OMIM:615703 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Neoplasm of the skin, Neoplasm |
ORPHA:315 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Cellulitis, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Netherton Syndrome |
|
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv... |
OMIM:256500 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... |
OMIM:300200 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Villous atrophy, Erythroderma, Failure to thrive, Alopecia, Hepatitis, Arthritis, Hypothy... |
OMIM:304790 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Keratoconjunctivitis sicca, Tiger tail banding, Small nail, Erythroderma, Small for ge... |
OMIM:601675 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age |
OMIM:613217 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Failure to thrive, Pruritus, Alopecia, Keratitis, Abnormality of the nail, Hypohidr... |
ORPHA:79394 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Hypoth... |
OMIM:614162 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Failure to thrive in infancy, Villous atrophy, Patchy alopecia, ... |
OMIM:606367 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Paronychia, Onychogryposis... |
OMIM:614328 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Recurrent cutaneous ab... |
ORPHA:499 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... |
ORPHA:1916 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyelashes, Erythroderma, Scarring alopecia of scalp, Absent eyelashes, Punctate keratitis,... |
OMIM:602540 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Caudal Duplication |
|
Spinal cord lesion, Spina bifida, Myelomeningocele |
ORPHA:1756 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus |
OMIM:207950 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Hirsutism, Diffuse leiomyomatosis, Fibr... |
ORPHA:314478 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Generalized hypopigmentation, Hepatic fibrosis, Colitis, Small for... |
ORPHA:84064 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis, Sparse body hair |
ORPHA:85274 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Craniorachischisis |
|
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Neoplasm, Irregular hyperpigme... |
ORPHA:2897 |
Sézary Syndrome |
|
Neoplasm of the skin, Hepatomegaly, Erythroderma, Pruritus, Nail dystrophy, Alopecia, Lymphoma, C... |
ORPHA:3162 |
Netherton Syndrome |
|
Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Sparse scalp hair, T... |
ORPHA:634 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules, Bronchiectasis |
OMIM:619445 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Alopecia, Malabsorption, Lymphoma, Premature ov... |
ORPHA:100025 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy |
OMIM:618168 |
Omenn Syndrome |
|
Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Pruritus, Alopecia, Lymphoma, Thyroidit... |
ORPHA:39041 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Neoplasm of the skin, Aganglionic megacolon, Abnormal eyebrow morphol... |
ORPHA:2885 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Overgrowth, Hypothalamic hamartoma, Increased circulating g... |
ORPHA:759 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Pneumonia, Lymphoproliferative disorder, Br... |
OMIM:614700 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy, Failure to thrive |
OMIM:615863 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... |
ORPHA:145 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogona... |
OMIM:300510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism, Thick eyebrow |
OMIM:309585 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglo... |
ORPHA:2221 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Hirsutism, Small for gestational age |
ORPHA:85288 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Congenital Disorder Of Glycosylation, Type Id |
|
Small nail, High palate, Villous atrophy, Failure to thrive, Joint contracture of the hand, Arthr... |
OMIM:601110 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism... |
ORPHA:261483 |
Coffin-Siris Syndrome 8 |
|
Eczema, Failure to thrive, Long eyelashes, Hyperactivity, Thick eyebrow, Sparse scalp hair |
OMIM:618362 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure, P... |
OMIM:602579 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Schisis Association |
|
Spina bifida, Anencephaly |
ORPHA:63862 |
Alazami-Yuan Syndrome |
|
Highly arched eyebrow, High palate, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivi... |
OMIM:617126 |
Chronic Actinic Dermatitis |
|
Hypopigmented skin patches, Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma... |
ORPHA:330064 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Erythroderma, Joint contracture of the hand |
OMIM:616395 |
Bazex Syndrome |
|
Atopic dermatitis, Eczema, Hyperpigmentation of the skin, Coarse hair, Basal cell carcinoma, Acne... |
OMIM:301845 |
Bathing Suit Ichthyosis |
|
Erythroderma, Nail dystrophy, Alopecia, Hypohidrosis, Multiple joint contractures, Sparse hair |
ORPHA:100976 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... |
ORPHA:99330 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Cryptorchidism |
OMIM:617796 |
Refractory Celiac Disease |
|
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Lym... |
ORPHA:398063 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... |
ORPHA:71526 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Pustule, Scarring, Scarring alopecia of scalp, Recurrent skin infection... |
ORPHA:346 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Failure to thrive, Weight loss, Malabsorption, Arthritis, Anal atresia, Abnormal... |
ORPHA:92050 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Failure to thrive, Alopecia, Cirrhosis, Fragile nails, Conjunctivitis |
OMIM:242150 |
Pachydermoperiostosis |
|
Neoplasm of the skin, Eczematoid dermatitis, Neoplasm of the lung, Hepatomegaly, Peptic ulcer, Se... |
ORPHA:2796 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Spars... |
ORPHA:754 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Erythroderma |
OMIM:618840 |
Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Hypospadias, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Flexion contracture, Sparse hair |
OMIM:242300 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Carcinoma Of Esophagus |
|
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm |
ORPHA:70482 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Obesity, Esophageal carcinoma |
ORPHA:99976 |
Ichthyosis With Confetti |
|
Erythroderma, Hypertrichosis |
OMIM:609165 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Cleft palate, Aganglionic megacolon, Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Abse... |
OMIM:308205 |
Verrucous Hemangioma |
|
Hemangioma, Inflammatory abnormality of the skin, Papilloma |
ORPHA:464318 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Villous atrophy, Skin rash, Enterocolitis |
OMIM:616050 |
Retinohepatoendocrinologic Syndrome |
|
Abnormality of skin pigmentation, Infertility |
OMIM:268040 |
Ovarian Fibroma |
|
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovarian fibro... |
ORPHA:314473 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin, Neoplasm |
OMIM:600630 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Villous atrophy, Biliary tract abnormality, Failure to thri... |
OMIM:209920 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Alopecia of scalp, Erythroderma, Pruritus, Hyperpigmentation of the skin |
OMIM:608649 |
Omenn Syndrome |
|
Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Hypoplasia of the thymus, Alopecia |
OMIM:603554 |
Trichohepatoenteric Syndrome 1 |
|
Fine hair, Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Failure to... |
OMIM:222470 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... |
OMIM:145250 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Oligoarthritis |
OMIM:619510 |
Ring Chromosome 21 Syndrome |
|
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia |
ORPHA:1445 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Amed Syndrome, Digenic |
|
Failure to thrive, Acute myeloid leukemia, Myelodysplasia, Hypoplasia of the uterus |
OMIM:619151 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... |
ORPHA:33445 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Abnormal hair morphology, Weight loss, Alopecia, Abnormal testis morphology... |
ORPHA:317 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Cry... |
ORPHA:10 |
Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Aganglionic megacolon, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:897 |
Large Congenital Melanocytic Nevus |
|
Hypopigmented skin patches, Neoplasm of the skin, Cutaneous melanoma, Rhabdomyosarcoma, Abnormali... |
ORPHA:626 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Lamellar Ichthyosis |
|
Erythroderma, Chronic otitis media, Pruritus, Abnormality of the nail, Aplasia/Hypoplasia of the ... |
ORPHA:313 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Gastroesophageal reflux, Hirsutism |
OMIM:300434 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Neoplasm of the skin, Eczema, Hepatomegaly, Pruritus, Alopecia, Lymph... |
ORPHA:2584 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Piebaldism |
|
Hypopigmented skin patches, Neoplasm of the skin, Aganglionic megacolon, Piebaldism, White eyelas... |
ORPHA:2884 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Intrauterine growth retardation, Abnormality of skin pigmentation, Nail dystrophy, Alopecia, Spar... |
OMIM:616353 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity, Micropenis, External genital hypoplasia |
OMIM:615983 |
Ataxia-Telangiectasia |
|
Gait disturbance, Failure to thrive, Polycystic ovaries, Neoplasm, Abnormal testis morphology, At... |
ORPHA:100 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, High palate, Frontal upsweep of hair |
OMIM:300983 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Spotty hyperpigmentation, Macul... |
ORPHA:79147 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Diastomatomyelia |
ORPHA:1759 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, High palate, Bronchiectasis, Pruritus, Alopecia, Recurrent otitis medi... |
OMIM:618282 |
Immunodeficiency 61 |
|
Obesity, Colon cancer |
OMIM:300310 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Nail dystrophy, Alopecia, Gastrointestinal carcinoma, Malabsorption, Hyperp... |
OMIM:175500 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, High palate, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, ... |
ORPHA:35173 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Gonadotropin deficiency, Cholestasis, Adrenocorticotropic hormone deficien... |
OMIM:609734 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair, Seborrheic dermatitis, Failure to thrive |
OMIM:121270 |
Familial Melanoma |
|
Neoplasm of the breast, Neoplasm of the stomach, Abnormal hair morphology, Freckling, Neoplasm of... |
ORPHA:618 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... |
OMIM:300845 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Hirsutism, Freckling, Myxoid s... |
OMIM:160980 |
Immunodeficiency 58 |
|
Dysphagia, Eczema, Allergic rhinitis, Helicobacter pylori infection, Recurrent cutaneous abscess ... |
OMIM:618131 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Portal fibrosis, He... |
OMIM:619377 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Hypoplasia of t... |
ORPHA:247768 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Aganglionic megacolon, White forelock, Heterochromia iridis, Hypopigm... |
ORPHA:895 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Hirsutism, Long eyelashes, Intestinal malrotation, Hyperactivity, Narrow palate |
OMIM:613684 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Monosomy 22 |
|
High palate, Meningioma, Gonadal neoplasm, Seborrheic dermatitis, Aplasia of the thymus, Sarcoma,... |
ORPHA:96123 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:1327 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait, Obe... |
ORPHA:411515 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Erythroderma, Pruritus, Abnormality of the liver, Myeloproliferative disorder, Gast... |
ORPHA:79456 |
Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, ... |
ORPHA:302 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Villous atrophy, Malabsorption, Decreased circulating cortisol level |
OMIM:600955 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Phenylketonuria |
|
Blue irides, Eczema, Hyperactivity, Attention deficit hyperactivity disorder, Generalized hypopig... |
OMIM:261600 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, External genital hypoplasia |
OMIM:605231 |
Xeroderma Pigmentosum Variant |
|
Hyperpigmentation of the skin, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell ... |
ORPHA:90342 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Keratoconjunctivitis sicca, Eczema, Xerostomia, Failure to thrive, Breast aplasia, Gen... |
ORPHA:238468 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Failure to thrive, Decreased liver function, Ataxia, Inability to walk, Hepatic steato... |
ORPHA:70472 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis medi... |
ORPHA:47 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Eczema, Hypertrichosis, Hepatic fibrosis |
OMIM:176090 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycystic ovaries |
OMIM:184700 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Congenital exfoliative erythroderma, Malabsorption |
ORPHA:1954 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Profuse pigmented skin lesions, Erythroderma |
ORPHA:280785 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Abnormality of skin pigmentation, Hypohidrosis, Abnormal fingernail morphology, Sparse ha... |
ORPHA:1810 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... |
ORPHA:391487 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism |
ORPHA:2222 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypertrichosis, Hypoplastic nipples, Villous atrophy, Torticollis, Hep... |
ORPHA:79328 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Papillon-Lefèvre Syndrome |
|
Hypopigmented skin patches, Neoplasm of the skin, Hypertrichosis, Pustule, Chronic furunculosis, ... |
ORPHA:678 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Eczema, Umbilical hernia, Small for gestational age, Arthrogryposis multip... |
ORPHA:352490 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Alopecia, Erythroderma |
ORPHA:169154 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, White forelock, ... |
OMIM:277580 |
Elejalde Disease |
|
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... |
OMIM:256710 |
46,Xy Sex Reversal 11 |
|
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Elevate... |
OMIM:273250 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Bilia... |
ORPHA:567983 |
Biotinidase Deficiency |
|
Lethargy, Hepatomegaly, Seborrheic dermatitis, Alopecia, Ataxia, Recurrent skin infections, Skin ... |
OMIM:253260 |
Microvillus Inclusion Disease |
|
Pruritus, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Hypoplasia of the ovary, Increased circulating gonadotropin level,... |
OMIM:615300 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Highly arched eyebrow, Decreased body weight, High palate |
OMIM:618342 |
Trichothiodystrophy |
|
Eczema, Brittle hair, Fragile nails, Congenital exfoliative erythroderma, Umbilical hernia, Conju... |
ORPHA:33364 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, White forelock, ... |
OMIM:613265 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the ovary, Neoplasm of the oral cavity |
ORPHA:543 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation |
OMIM:609054 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Congenital hypothyroidism, Hyperactivity, Obesity, Cryptorchidism, Fair hair, Red hair |
OMIM:614613 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Nail dysplasia, Hypohidrosis, Erysipelas |
OMIM:615704 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Synophrys |
OMIM:300803 |
Pachyonychia Congenita 2 |
|
Dry hair, Steatocystoma multiplex, Subungual hyperkeratosis, Folliculitis, Nail dystrophy, Sparse... |
OMIM:167210 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Hydrocephalus, Spin... |
ORPHA:1908 |
Scleroderma |
|
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Barrett esopha... |
ORPHA:801 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... |
ORPHA:2232 |
Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Periventricular heterotopia |
OMIM:300624 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Pili Torti-Onychodysplasia Syndrome |
|
Keloids, Cleft palate, Eczema, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eye... |
ORPHA:2890 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Neoplasm of the breast, Goiter, Alopecia, Polycystic ovaries, Neoplasm... |
ORPHA:457059 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Erythroderma, Failure to thrive, Alopecia, Sparse and thin eyebrow, Sparse hair |
OMIM:302960 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Sparse hair, Erythroderma, Recurrent skin infections |
OMIM:615508 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss, Erythroderma |
ORPHA:312 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Mental Retardation, Autosomal Recessive 61 |
|
Highly arched eyebrow, High palate, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:617773 |
Mismatch Repair Cancer Syndrome 3 |
|
Astrocytoma, Neoplasm of the rectum, Glioblastoma multiforme, Lisch nodules, Lymphoma, Axillary f... |
OMIM:619097 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Precocious puberty |
OMIM:604931 |
Vascular Hyalinosis |
|
Chorioretinal scar, Premature graying of hair, Malabsorption, Protein-losing enteropathy, Hematoc... |
OMIM:277175 |
Chromosome Xq25 Duplication Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Hyperactivity, Sparse eyebrow |
OMIM:300979 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism, Abnormal testis morphology, Low posterior hairline, Abnormal hair quantity |
ORPHA:2233 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Pustule, Inters... |
ORPHA:139402 |
Watson Syndrome |
|
Short stature, Lisch nodules, Axillary freckling, Multiple cafe-au-lait spots, Neurofibromas |
OMIM:193520 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Hirsutism, Uterine leiomyoma, Dystrophic toenail, Hemangioma, Small for gest... |
ORPHA:1439 |
Lipoid Proteinosis |
|
Dystonia, Dysphagia, High palate, Alopecia of scalp, Scarring, Pustule, Verrucae, Tongue nodules,... |
ORPHA:530 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Premature ovarian insufficiency |
OMIM:618124 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Intrauterine growth retardation, Hydrocephalus, Abnormality of chromosome st... |
OMIM:614083 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Meckel Syndrome, Type 2 |
|
Meningocele, Intrauterine growth retardation, Anencephaly |
OMIM:603194 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Alopecia, Failure to thrive, Lethargy |
OMIM:210210 |
Systemic Sclerosis |
|
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Barrett esophagus, Pericarditis, O... |
ORPHA:90291 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Basal cell carcinoma, Squamous cell carcinoma of ... |
ORPHA:79434 |
Porokeratosis 1, Multiple Types |
|
Abnormality of chromosome stability |
OMIM:175800 |
Iniencephaly |
|
Myelomeningocele, Anencephaly, Holoprosencephaly, Syringomyelia, Spina bifida, Hydrocephalus, Spi... |
ORPHA:63259 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Patent ductus arteriosus, Decreased liver function, Cholestasis,... |
OMIM:608104 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia of scalp, Spars... |
ORPHA:79402 |
Immunodeficiency 54 |
|
Chromosome breakage, Intrauterine growth retardation |
OMIM:609981 |
Oculocutaneous Albinism |
|
Cutaneous melanoma, Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, Whit... |
ORPHA:55 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Reduced intraabdomi... |
ORPHA:363400 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... |
ORPHA:90280 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... |
ORPHA:169160 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida |
ORPHA:1393 |
Piebald Trait |
|
Aganglionic megacolon, Partial albinism, Piebaldism, Neoplasm, White forelock, Heterochromia irid... |
OMIM:172800 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid carcinoma, Freckling, Endometrial carcinoma, Hemangioma, Renal cell carcinoma, Multinodul... |
ORPHA:306498 |
Hyperostosis Frontalis Interna |
|
Obesity, Hypertrichosis, Increased circulating prolactin concentration |
OMIM:144800 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Absent pubic hair, Cryptorchi... |
OMIM:614841 |
Bloom Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Azoospermia, Cryptorchidism, Decreased fert... |
OMIM:210900 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Ataxia, Erythroderma, Flexion contracture |
OMIM:609180 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Highly arched eyebrow, Sparse eyebrow |
ORPHA:521258 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Gait disturbance, Lactose intolerance, Hypopigmented skin patches, Hemangioma, ... |
ORPHA:457485 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Small nail, Abnormality of skin pigmentation, Failure to thrive, Nail dystrophy, Hernia, ... |
OMIM:617052 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... |
ORPHA:91 |
Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele |
ORPHA:101030 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia |
OMIM:615982 |
Gand Syndrome |
|
Hyperactivity, Sparse hair |
OMIM:615074 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Failure to thrive, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait, Gastroesophagea... |
OMIM:617865 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy, Squamous cell carcinoma |
OMIM:613988 |
Oculocutaneous Albinism Type 4 |
|
Neoplasm of the skin, Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism,... |
ORPHA:79435 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Increased circulating gonadotropin level, Breast hypoplasia, Enlarged p... |
ORPHA:785 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation |
OMIM:605724 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Neoplasm of the skin, Generalized hypopigmentation, Actinic keratosis, Iris transill... |
ORPHA:352731 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Infectious encephalitis, Erythroderma, Cholestatic liver disease, Decreased liver f... |
ORPHA:540 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... |
ORPHA:300298 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Pemphigus Foliaceus |
|
Neoplasm of the skin, Psoriasiform dermatitis, Pustule, Erythroderma, Pruritus, Hematological neo... |
ORPHA:79481 |
Oculocutaneous Albinism Type 2 |
|
Cutaneous melanoma, Absent skin pigmentation, Abnormality of retinal pigmentation, Blue irides, H... |
ORPHA:79432 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Onycholysis, Weight loss, Hyperactivity, Hyperhidrosis, Graves disease |
OMIM:275000 |
Ovarian Dysgenesis 9 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619665 |
Premature Ovarian Failure 6 |
|
Elevated circulating follicle stimulating hormone level, Streak ovary, Premature ovarian insuffic... |
OMIM:612310 |
Pseudopelade Of Brocq |
|
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... |
ORPHA:129 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Congenital exfoliative erythroderma |
OMIM:227090 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Dysphagia, Eczema, Myelodysplasia, Erythroderm... |
ORPHA:3260 |
Corneodermatoosseous Syndrome |
|
Hypomature dental enamel, Erythroderma, Onycholysis |
OMIM:122440 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Coffin-Siris Syndrome 7 |
|
Hypoplastic fifth toenail, Recurrent otitis media, Hyperactivity, Thick eyebrow, Sparse scalp hair |
OMIM:618027 |
Premature Ovarian Failure 18 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619203 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Obesity, Crypto... |
ORPHA:96263 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Hydrocephalus, Abnormality of chromosome stability, Patent ductu... |
OMIM:300514 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615996 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Synophrys |
OMIM:615541 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
Mehmo Syndrome |
|
External genital hypoplasia, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis |
ORPHA:85282 |
Whim Syndrome |
|
Cutaneous melanoma, Sinusitis, Abnormality of the small intestine, Cervix cancer, Pneumonia, Bron... |
ORPHA:51636 |
Classic Phenylketonuria |
|
Eczema, Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of t... |
ORPHA:79254 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Werner Syndrome |
|
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Slender build, Neopl... |
ORPHA:902 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Villous atrophy, Pneumonia, Cholesteatoma, Bronchiectasis, Weight loss, Hepatitis... |
OMIM:619381 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Generalized hyperpigmentation, Dystrophic toenail, Abnormality of skin pigmentati... |
ORPHA:2930 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... |
ORPHA:37042 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Meckel Syndrome, Type 4 |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Hydrocephalus |
OMIM:611134 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, White forelock, Heterochromia iridis, White eyebrow,... |
OMIM:193510 |
Trigonocephaly 1 |
|
Omphalocele, Meckel diverticulum, Synophrys |
OMIM:190440 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Micropenis, Decreased testicular size |
OMIM:614962 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism |
OMIM:617660 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Villous atrophy, Hodgkin lymphoma, Small for gestational age, Increas... |
OMIM:619573 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Leukemia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogona... |
OMIM:600901 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Absence of ... |
ORPHA:90156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Kid Syndrome |
|
Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Acne inversa, Sparse hair, Conjunctivitis,... |
ORPHA:477 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Basal cell carcinoma, Squamous cell carcinoma of the skin, Albinism, ... |
ORPHA:79431 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Aganglionic megacolon, Abnormality of skin pigmentation, Abnormal eye... |
ORPHA:3440 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Leukemia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogona... |
OMIM:227650 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus, Long eyelashes, Abdominal obesity |
OMIM:600908 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Dorsocervical fat pad, Alopecia, Increa... |
OMIM:615830 |
Angelman Syndrome Due To A Point Mutation |
|
Dysphagia, Gait imbalance, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-bas... |
ORPHA:411511 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
8P11.2 Deletion Syndrome |
|
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypog... |
ORPHA:251066 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|