Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Abnormal salivary gland morphology, Neoplasm, Thick lower lip vermilion |
ORPHA:1221 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Brooke-Spiegler Syndrome |
|
Basal cell carcinoma, Skin appendage neoplasm, Abnormality of the submandibular glands, Salivary ... |
ORPHA:79493 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Syndromic X-Linked Intellectual Disability 7 |
|
Tooth malposition, Sparse body hair, Hypogonadism, Abnormal dental morphology, Obesity, Cryptorch... |
ORPHA:85274 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity, External genital hypoplasia, Cognitive impairment, Micropenis |
OMIM:615983 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
Mehmo Syndrome |
|
Male hypogonadism, Cleft lip, Long philtrum, Widely spaced teeth, Decreased response to growth ho... |
OMIM:300148 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis |
OMIM:614962 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... |
OMIM:613670 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Pathologic fracture, Intestinal perforation, Abnormal salivary gland morp... |
ORPHA:314652 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Obesity, Thick eyebrow, Short attention span, Thin upper lip vermilion, Atte... |
ORPHA:444002 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
48,Xxyy Syndrome |
|
Carious teeth, Open bite, Tall stature, Cryptorchidism, Radioulnar synostosis, Ataxia, Motor ster... |
ORPHA:10 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Cog... |
OMIM:615300 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Everted upper lip vermilion, Difficulty walking, Wide mouth, Generalized joint hypermobility, Sho... |
ORPHA:280763 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Polyphagi... |
OMIM:616831 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, External genital hypoplasia, Renal insufficiency, Stage 5 chronic kidney d... |
OMIM:615993 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... |
ORPHA:411515 |
Narcolepsy Type 1 |
|
Precocious puberty, Transient global amnesia, Male sexual dysfunction, Female sexual dysfunction,... |
ORPHA:2073 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Al Amyloidosis |
|
Macroglossia, Xerostomia, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Albu... |
ORPHA:85443 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility |
OMIM:604931 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Open mouth, Cryptorchidism, I... |
OMIM:615547 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Long philtrum, Cryptorchidism, Generalized joint hypermobility, Increased body weight, Attention ... |
ORPHA:589905 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Xerostomia, Cryptorchidism, Increased body weight, Polyphagia, Cognitive impairmen... |
ORPHA:398069 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... |
OMIM:610628 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... |
ORPHA:2233 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Neurofibroma |
|
Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom... |
ORPHA:252183 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Obesity, Loss of ambulation, Ataxia, Premature ovarian insufficiency, Unstea... |
OMIM:618124 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism,... |
OMIM:615982 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Xerostomia, Cryptorchidism, Polyphagia, Primary amenorrhea, Precocious puberty, Os... |
ORPHA:398079 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia |
ORPHA:79476 |
Chung-Jansen Syndrome |
|
Long philtrum, Obesity, Thick eyebrow, Cryptorchidism, Joint hypermobility, Short philtrum, Aggre... |
OMIM:617991 |
Lynch Syndrome |
|
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Weight loss, Hemat... |
ORPHA:144 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Thin upper lip vermilion, Polyphagia, ... |
OMIM:620439 |
Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... |
ORPHA:252164 |
Insulin-Resistance Syndrome Type B |
|
Nephritis, Alopecia, Glycosuria, Lymphoma, Abnormality of body weight, Polycystic ovaries, Increa... |
ORPHA:2298 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Obesity, Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation... |
ORPHA:177910 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Obesity, Reduced social reciprocity |
ORPHA:329249 |
48,Xxxy Syndrome |
|
Small scrotum, Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size,... |
ORPHA:96263 |
Kallmann Syndrome |
|
Ataxia, Abnormal morphology of female internal genitalia, Tooth agenesis, Breast hypoplasia, Obes... |
ORPHA:478 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair |
ORPHA:71526 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Obesity, Azoospermia, Oligozoospermia |
OMIM:615703 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Lead Poisoning |
|
Chronic kidney disease, Memory impairment, Decreased male libido, Reduced sperm motility, Delayed... |
ORPHA:330015 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity, Narrow mouth |
OMIM:615984 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Male hypogonadism, Shuffling gait, Bruxism, Obesity, Wrist flexion contracture, High pala... |
OMIM:300055 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Short at... |
ORPHA:98794 |
Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Blue irides, White hair |
OMIM:250900 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Abnormality of the dentition, Breast hypoplasia, Obesity, Re... |
ORPHA:2235 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Recurren... |
ORPHA:411511 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... |
ORPHA:177901 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Obesity, Azoospermia, Low posterior hairline, Sparse facial hair, Absent fac... |
ORPHA:2183 |
Wilson Disease |
|
Failure to thrive, Abnormality of the menstrual cycle, Difficulty walking, Pathologic fracture, I... |
ORPHA:905 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... |
ORPHA:98793 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Alopecia, Memory impairment, Abnormal libido, Pituitary adenoma, Neuroend... |
ORPHA:189427 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Bulimia, Cryptorchidism, Polyphagia, Anterior pituitary hypoplasia, Primary amenor... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... |
ORPHA:177904 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity |
OMIM:615986 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hyp... |
ORPHA:3085 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Abnorm... |
ORPHA:3409 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Decreased fert... |
ORPHA:2234 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair |
ORPHA:2221 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias |
ORPHA:141333 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct... |
OMIM:604292 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Abnormal hair whorl, Downturned corners of mouth, Horseshoe kidney, Nail... |
OMIM:300860 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Increased bone mineral density, Tall stature |
OMIM:618406 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... |
ORPHA:91348 |
Angelman Syndrome |
|
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Fair hair, Widely space... |
ORPHA:72 |
Radio-Tartaglia Syndrome |
|
Ataxia, Long eyebrows, High palate, Dysphagia, Motor stereotypy, Precocious puberty, High, narrow... |
OMIM:619312 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decreased testicular... |
ORPHA:457240 |
46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Thick lower lip vermilion, Hypogonadism, Decreased testicular size, Obesity, Op... |
ORPHA:85293 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct... |
OMIM:129900 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Aggressive behavior, H... |
ORPHA:3077 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Ataxia, Carious teeth, Organic aciduria, Long philtrum, Obesity, Long eyelashes, Joint hypermobil... |
OMIM:620191 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Prader-Willi Syndrome |
|
Small scrotum, Carious teeth, Frontal upsweep of hair, Cryptorchidism, Polyphagia, Primary amenor... |
OMIM:176270 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Female infertility, Ambiguous genitalia, female, Obe... |
ORPHA:91 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Pancreatic fibrosis, Nodular goiter, Abnormal pituitary g... |
ORPHA:64744 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pitu... |
ORPHA:66628 |
Melioidosis |
|
Foot osteomyelitis, Parotitis, Prostatitis, Osteoarthritis, Septic arthritis, Abnormal parotid gl... |
ORPHA:31202 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... |
ORPHA:247768 |
Smith-Magenis Syndrome |
|
Abnormality of the dentition, Head-banging, Velopharyngeal insufficiency, Everted upper lip vermi... |
OMIM:182290 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pitu... |
ORPHA:179494 |
Obesity Due To Sim1 Deficiency |
|
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... |
ORPHA:369873 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Obsessive-compulsive trait, Cryptorchi... |
ORPHA:500055 |
Wagro Syndrome |
|
Hypoplastic female external genitalia, Dental crowding, Decreased testicular size, Obesity, Reduc... |
OMIM:612469 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormality of the dentition, Abnormal ... |
ORPHA:2363 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Epiphyseal stippling, Increased body weight, Attention deficit hyperactivity disorder, Sm... |
OMIM:274300 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Hypogonadism, Low urinary cyclic AMP response to PTH administration, O... |
OMIM:103580 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Nephrolithiasis, Hirsutism, Oligomeno... |
OMIM:219090 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Delayed eruption of teeth, Increased body weight, Increased body mass index, Ma... |
OMIM:614450 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thrive, Premature graying of hair |
ORPHA:100 |
Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdontia of primary... |
ORPHA:177907 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Increased body weight, Agitation |
ORPHA:276608 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormal salivary gland morphology, Hypercalciuria, Weight l... |
OMIM:181000 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... |
ORPHA:79078 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Increased body weight, Dysmen... |
ORPHA:79240 |
Insulinoma |
|
Transient global amnesia, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Zollinger-El... |
ORPHA:97279 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Increased body w... |
ORPHA:264580 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LD... |
OMIM:618156 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointers... |
OMIM:616629 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Hypogonadism, Low urinary cyclic AMP response to PTH administration, O... |
OMIM:612462 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Cognitive impairme... |
OMIM:615994 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia |
ORPHA:363741 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Obesity, Blue irides |
OMIM:614613 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Obesity, Thick eyebrow, Cryptorchidism, Joint hypermobility, Aggressive ... |
ORPHA:404443 |
Prolactinoma |
|
Decreased fertility in females, Elevated circulating growth hormone concentration, Female hypogon... |
ORPHA:2965 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Increased circulating prolactin concentration, Ganglioneurob... |
ORPHA:293987 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity, Reduced social reciprocity, Attention d... |
ORPHA:261197 |
Bdv Syndrome |
|
Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis |
OMIM:619326 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Cryptorchidism, Polyphagia, High palate, Unsteady gait, Hypospadias, Moto... |
ORPHA:96121 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... |
ORPHA:1359 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased urinary cortisol le... |
ORPHA:99889 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Angelman Syndrome |
|
Broad-based gait, Fair hair, Widely spaced teeth, Obesity, Wide mouth, Protruding tongue, Progres... |
OMIM:105830 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Kleefstra Syndrome |
|
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Everted lower lip vermilion, ... |
ORPHA:261494 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... |
OMIM:154500 |
Sotos Syndrome |
|
High, narrow palate, Narrow palate, Sparse eyebrow, High anterior hairline, Tall stature, Cryptor... |
OMIM:117550 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Kleefstra Syndrome 1 |
|
Hypospadias, Natal tooth, Obesity, Persistence of primary teeth, Cryptorchidism, Protruding tongu... |
OMIM:610253 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Villous atrophy, Primary amenorrhea |
OMIM:600955 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
Igg4-Related Ophthalmic Disease |
|
Lymphoma, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Non-Hodgkin... |
ORPHA:449563 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Delayed eruption of teeth, Low uri... |
ORPHA:79444 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Increased body weight, Proteinur... |
ORPHA:263455 |
Macrocephaly/Autism Syndrome |
|
Coarse hair, Long philtrum, Obesity, Large for gestational age, Short attention span, Penile frec... |
OMIM:605309 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Renal insufficiency |
ORPHA:890 |
Adrenocortical Carcinoma |
|
Hypertrichosis, Increased urinary cortisol level, Lung adenocarcinoma, Increased body weight, Abn... |
ORPHA:1501 |
Down Syndrome |
|
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... |
ORPHA:870 |
Cushing Disease |
|
Memory impairment, Abnormal libido, Pituitary corticotropic cell adenoma, Increased urinary corti... |
ORPHA:96253 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Delayed eruption of teeth, Low uri... |
ORPHA:79443 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Frequent t... |
OMIM:616078 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, Hypospadias, M... |
ORPHA:353281 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... |
ORPHA:1772 |
Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Ataxia, Dental crowding, Hypogonadism, Decreased testicular size, Obesity, A... |
OMIM:209900 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Macular edema, Abnormal retinal vascular morphology, Retinal neovascularizatio... |
ORPHA:247691 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, De... |
ORPHA:3138 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Recurrent frac... |
ORPHA:251004 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Ankyloglossia, Decreased body weight, Hematuria, Cognitive impairment, Ataxia, ... |
OMIM:619475 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Helsmoortel-Van Der Aa Syndrome |
|
Carious teeth, Ankyloglossia, Cryptorchidism, Polyphagia, Everted lower lip vermilion, Dysphagia,... |
OMIM:615873 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... |
ORPHA:238468 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Hirsutism, Increased body weight, Osteoporosis |
OMIM:615830 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Narcolepsy, Disinhibition, Aggressive... |
ORPHA:646 |
Sheehan Syndrome |
|
Secondary growth hormone deficiency, Sparse pubic hair, Breast hypoplasia, Obesity, Panhypopituit... |
ORPHA:91355 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Long philtrum, Tall stature, Large for gestational age, Narrow mouth, ... |
ORPHA:77301 |
Blau Syndrome |
|
Nephropathy, Xerostomia, Limitation of joint mobility, Camptodactyly of finger, Stage 5 chronic k... |
ORPHA:90340 |
African Trypanosomiasis |
|
Urinary incontinence, Alopecia, Abnormality of the menstrual cycle, Narcolepsy, Difficulty walkin... |
ORPHA:3385 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po... |
ORPHA:110 |
1P21.3 Microdeletion Syndrome |
|
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Joint hypermobility,... |
ORPHA:293948 |
Meningioma |
|
Neoplasm of the skin, Increased circulating prolactin concentration, Difficulty walking, Neoplasm... |
ORPHA:2495 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Increased body weight, Abdomi... |
OMIM:615954 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Increased ... |
ORPHA:54595 |
1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Narrow mouth, Cryptorchidism, Generalized hirsutis... |
ORPHA:1606 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
Distal Deletion 12Q |
|
Obsessive-compulsive trait, Polycystic kidney dysplasia, Ectopic kidney, Duodenal atresia, Patent... |
ORPHA:96149 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Moderate albuminuria, Osteopenia, Hypogonadism, Pathologic fracture, Obesity, Exte... |
OMIM:614231 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Cognitive impairment, Vagin... |
OMIM:615989 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Bilateral breast hypoplasia, Primary amenorrhea |
ORPHA:319675 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... |
ORPHA:99413 |
Turner Syndrome |
|
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... |
ORPHA:881 |
Mosaic Monosomy X |
|
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... |
ORPHA:99228 |
Monosomy X |
|
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... |
ORPHA:99226 |
Williams Syndrome |
|
Synostosis of joints, Carious teeth, Open bite, Cryptorchidism, Overfriendliness, Polycystic ovar... |
ORPHA:904 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Memory impairment, Narcolepsy, Ataxia, Urinary incontinence |
ORPHA:314404 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Open mouth, Cryptorchidism, Protruding tongue, High palate, Hypospadias, Widely-sp... |
OMIM:309580 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... |
OMIM:149730 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, High palate, H... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, High palate, H... |
ORPHA:353277 |
Syndromic Diarrhea |
|
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... |
ORPHA:84064 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Alopecia, Enlargement of parotid gland, Oral ulcer, Weight loss, Anorexia |
ORPHA:50918 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... |
ORPHA:79430 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... |
OMIM:214500 |
Blue Diaper Syndrome |
|
Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... |
ORPHA:167 |
Sarcoidosis |
|
Alopecia, Nephrocalcinosis, Parotitis, Renal insufficiency, Enlargement of parotid gland, Nephrol... |
ORPHA:797 |
Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Vici Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Elevated circulating creatine k... |
OMIM:242840 |
Pallister-Hall Syndrome |
|
Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Anal atresia, Hypo... |
ORPHA:672 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk... |
OMIM:219800 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Abdominal obesity |
ORPHA:739 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
Degcags Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Premature graying of hair, Hypertrichosis, Abnor... |
OMIM:619488 |
Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Frontal balding, Polycystic ovaries, Polyphagia, Cog... |
ORPHA:64 |
Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... |
ORPHA:818 |
Hellp Syndrome |
|
Increased body weight, Proteinuria, Acute kidney injury, Hemoglobinuria |
ORPHA:244242 |
Advanced Sleep Phase Syndrome, Familial, 1 |
|
|
OMIM:604348 |