Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
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 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... |
OMIM:131960 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Gemignani Syndrome |
|
Abnormal testis morphology, Hypopigmented skin patches |
ORPHA:2074 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Decreased fertility, Generalized hypopigmentation, Irregular hyperpi... |
ORPHA:1816 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop... |
ORPHA:177910 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... |
ORPHA:1807 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na... |
ORPHA:1867 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Adrenal Hypoplasia, Congenital |
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Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Ciliary Dyskinesia, Primary, 14 |
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Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypogonadism, Hypopigmented skin patches |
ORPHA:3143 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Abnormal testis morphology, Multiple cafe-au... |
ORPHA:100 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Cryptorchidism, Fair hair, Blue irides |
OMIM:614613 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha... |
OMIM:614077 |
Vici Syndrome |
|
Gray matter heterotopia, Abnormality of retinal pigmentation, Hypopigmentation of the skin |
ORPHA:1493 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail |
ORPHA:1295 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... |
ORPHA:79430 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypo... |
ORPHA:398079 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Synophrys, Hypopigmentation of the skin, Hirsutism |
OMIM:614969 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Gray matter heterotopia, Axillary freckling, Hypopigmentation of the... |
OMIM:276300 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2720 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Polymicrogyria |
ORPHA:457485 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Spotty hypopigmentation, Azoospermia, Cafe-au-lai... |
OMIM:210900 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Fron... |
OMIM:176270 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Polymicrogyria, Abnormality of hair pigmentation |
OMIM:618156 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... |
ORPHA:678 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:98754 |
Porphyria Variegata |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:79473 |
Crouzon Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:98793 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Infertility, Sma... |
ORPHA:2909 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:177904 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:177901 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin |
ORPHA:356961 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cryptorchidism, Hypopigmented skin patches, Polymicrogyria |
ORPHA:1647 |
Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:101330 |
Angelman Syndrome |
|
Delayed menarche, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Cryptorchidism, Hypopigmentation of the skin, Hypopigmented skin patches |
ORPHA:96061 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... |
OMIM:263700 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:3121 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Cryptorchidism, Primary amenorrhea, Hypogonadism, Infertility, Hypopigm... |
ORPHA:398069 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Ap... |
ORPHA:221008 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Cryptorchidism, Perisylvian polymicrogyria, Primary amenorrhea, Hypogon... |
ORPHA:739 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1784 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Hartnup Disease |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
Curry-Jones Syndrome |
|
Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Iris transillumination defect |
OMIM:617306 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,... |
ORPHA:125 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin |
OMIM:620237 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Stellate iris, Hypopigmentation of the s... |
ORPHA:177907 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe... |
OMIM:222470 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221016 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches |
ORPHA:47 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Harrod Syndrome |
|
Cryptorchidism, Hypopigmented skin patches |
ORPHA:2115 |
Incontinentia Pigmenti |
|
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ... |
ORPHA:464 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Gray matter heterotopia, Hypopigmentation of... |
OMIM:242840 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... |
ORPHA:84064 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... |
OMIM:604292 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Galloway-Mowat Syndrome 1 |
|
Pachygyria, Hypopigmentation of the skin, Small nail |
OMIM:251300 |
Tetragametic Chimerism |
|
Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches |
ORPHA:199310 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... |
ORPHA:90289 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... |
OMIM:129900 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... |
ORPHA:1359 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmented skin patches |
ORPHA:2715 |
Hepatoerythropoietic Porphyria |
|
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:95159 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized... |
ORPHA:1896 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Cryptorchidis... |
OMIM:619488 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair |
OMIM:252500 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... |
ORPHA:2637 |
Diffuse Cutaneous Mastocytosis |
|
Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Testicular neoplasm, Cryptorchidism, Cafe-au-lait spot, Fair hair, Hypopigmentation of ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Testicular neoplasm, Cryptorchidism, Cafe-au-lait spot, Fair hair, Hypopigmentation of ... |
ORPHA:363958 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, White forelock, Heter... |
OMIM:609136 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu... |
OMIM:305600 |
Xeroderma Pigmentosum |
|
Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic nevus, H... |
ORPHA:910 |
Cystinosis, Nephropathic |
|
Male infertility, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retin... |
OMIM:219800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Tetrasomy 9P |
|
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria |
ORPHA:3310 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... |
ORPHA:233 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin |
ORPHA:1724 |
Congenital Erythropoietic Porphyria |
|
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:79277 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o... |
OMIM:619475 |
Infantile Krabbe Disease |
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Hypopigmented skin patches |
ORPHA:206436 |
Hereditary Acrokeratotic Poikiloderma |
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Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ... |
ORPHA:2907 |
Neurofibromatosis Type 1 |
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Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... |
ORPHA:636 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Generalized hypopigmentation, Alopecia, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Familial Tumoral Calcinosis |
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Hypopigmented skin patches |
ORPHA:53715 |
Eosinophilic Granulomatosis With Polyangiitis |
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Hypopigmented skin patches |
ORPHA:183 |
Fanconi Anemia |
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Cryptorchidism, Hypopigmented skin patches, Abnormality of skin pigmentation, Azoospermia, Decrea... |
ORPHA:84 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Cryptorchidism, Fine hair, Azoospermia, Generalized hypopigmentation |
ORPHA:534 |
Pitt-Hopkins Syndrome |
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Cryptorchidism, Hypopigmented skin patches, Supernumerary nipple |
ORPHA:2896 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abn... |
ORPHA:2556 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:95455 |
Sarcoidosis |
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Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
Cowden Syndrome |
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Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:201 |
Sotos Syndrome |
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Cryptorchidism, Sparse anterior scalp hair, Decreased fertility, Hydrocele testis, Small nail, Hy... |
ORPHA:821 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Cryptorchidi... |
OMIM:601803 |
22Q11.2 Deletion Syndrome |
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Cryptorchidism, Hypopigmented skin patches |
ORPHA:567 |
Alström Syndrome |
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Hypergonadotropic hypogonadism, Precocious puberty in females, Testicular fibrosis, Hypoplasia of... |
ORPHA:64 |