Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Cheilitis Glandularis |
|
Neoplasm, Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma |
ORPHA:1221 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Basal cell carcinoma, Cylindroma, Multiple cuta... |
ORPHA:79493 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Obesity, Micropenis, Hypogonadis... |
ORPHA:85274 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Hypogonadism, Cognitive impairment, Micropenis |
OMIM:615983 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... |
OMIM:300148 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size |
OMIM:614962 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co... |
OMIM:613670 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Short attention span, High, narrow palate, Obesity, Compulsive behavior... |
ORPHA:444002 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal repetitive mannerisms, Ataxia, Abnormal dental enamel morphology, O... |
ORPHA:10 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Cryptorchidism, Synophrys, Generalized joint laxity, Increased body weight, Thin ver... |
ORPHA:589905 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Everted upper lip vermilion, Shyness, Overweight, Generalized joint laxity, Wide m... |
ORPHA:280763 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Obe... |
OMIM:615993 |
Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Irregular menstruation, Obesity, Advanced ossification of carpal bo... |
OMIM:616831 |
Chung-Jansen Syndrome |
|
Joint hypermobility, Impulsivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Thin v... |
OMIM:617991 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Downturned corners of ... |
ORPHA:85282 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hypopigmentation of hair, Hyperactivity, Ataxia, Broad-based gait, Obesity,... |
ORPHA:411515 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Xerostomia, Weight loss, Macroglossia, Nephrotic syndrome, Albu... |
ORPHA:85443 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... |
ORPHA:398069 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Schaaf-Yang Syndrome |
|
Abnormality of the philtrum, Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability... |
OMIM:615547 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, High, narrow palate, Unsteady gait, Obesity, Loss of amb... |
OMIM:618124 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary amenorrhea, Micrope... |
OMIM:610628 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, ... |
ORPHA:398079 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Aggressive behavior, Large for gestational age, Synophrys, Self-injurious behavior, Agita... |
OMIM:616116 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Renal cyst, H... |
OMIM:615982 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Obesity, Decreased fertility, Low posterior hairline, High palate, Hypogo... |
ORPHA:2233 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries,... |
ORPHA:2298 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... |
ORPHA:449432 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Po... |
ORPHA:177910 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology,... |
ORPHA:96263 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper... |
ORPHA:457240 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Obesity, Oligozoospermia |
OMIM:615703 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71526 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Recurrent fractures, Cry... |
ORPHA:478 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hypopigmentation of hair, Hyperactivity, ... |
ORPHA:98794 |
Leptin Receptor Deficiency |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Aggressive... |
OMIM:614963 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Protruding tongue, Abnormal eating behavior, ... |
ORPHA:411511 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Anorexia, Abnormal... |
ORPHA:330015 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Recurrent fractures, Reduced circulating prolactin concentration, ... |
ORPHA:2235 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, High palate, Shuffling gait,... |
OMIM:300055 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Irreg... |
ORPHA:189427 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177901 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, High, narrow palate, Obes... |
ORPHA:2183 |
Temple Syndrome |
|
Decreased testicular size, Small for gestational age, Overweight, Cryptorchidism, Precocious pube... |
OMIM:616222 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98793 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177904 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Generalized hirsutism |
ORPHA:2221 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, C... |
ORPHA:3409 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchidism, S... |
OMIM:617796 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea, Polycystic ovaries... |
ORPHA:3085 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Wagro Syndrome |
|
Dental crowding, Proteinuria, Nephroblastoma, Aggressive behavior, Multiple exostoses, Obesity, A... |
OMIM:612469 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias |
ORPHA:141333 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Obesity, Decreased fertility, Hypogonadism... |
ORPHA:2234 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Protruding tongue, Aggres... |
ORPHA:72 |
Radio-Tartaglia Syndrome |
|
Dental crowding, High, narrow palate, Synophrys, Low anterior hairline, High palate, Short philtr... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low... |
OMIM:300860 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Neoplasm, Nodular goi... |
ORPHA:64744 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent med... |
OMIM:300602 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
OMIM:176270 |
Fg Syndrome Type 1 |
|
Dental crowding, Generalized joint laxity, Fused teeth, High palate, Compulsive behaviors, Abnorm... |
ORPHA:93932 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Broad eyebrow, Small for gestational age, Decreased response to growth hormone stim... |
ORPHA:94065 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Velopharyngeal insuffic... |
OMIM:182290 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Broad-based gait, Camptodactyly of finger, Cachexia, Abnormal... |
ORPHA:85293 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Elbow hypertrichosis, Ataxia, Joint hypermobility, Aggressive behavior,... |
OMIM:620191 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower... |
ORPHA:870 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Cleft palate, Primary amenorrhea, Hypoplasia ... |
ORPHA:247768 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Cryptorch... |
ORPHA:457485 |
Tatton-Brown-Rahman Syndrome |
|
Joint hypermobility, Aggressive behavior, Cryptorchidism, Deep philtrum, Patent ductus arteriosus... |
ORPHA:404443 |
Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Osteopenia, Hypergonadotropic ... |
ORPHA:91 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Pyloric stenosis, Obesity, Cleft p... |
ORPHA:96184 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:66628 |
Melioidosis |
|
Foot osteomyelitis, Osteoarthritis, Abnormal parotid gland morphology, Septic arthritis, Prostati... |
ORPHA:31202 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:179494 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Hypospadias, Cryptorchidism, Obesity, Advanced ossification of carpal bones, Red h... |
OMIM:614613 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... |
ORPHA:1193 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity |
OMIM:615985 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Small for gestational age, Increased body weight, Epiphyseal stippling, Attention deficit hyperac... |
OMIM:274300 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contracture, Obsessive-comp... |
ORPHA:500055 |
Kleefstra Syndrome 1 |
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Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth, Cryptorchidism, Synoph... |
OMIM:610253 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Delayed eruption of teeth, Increased body mass index, Broad-based gait, Increased body weight, Ma... |
OMIM:614450 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Ataxia-Telangiectasia |
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Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots |
ORPHA:100 |
7Q11.23 Microduplication Syndrome |
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Short lingual frenulum, Dysmetria, Short philtrum, High palate, Abnormal repetitive mannerisms, A... |
ORPHA:96121 |
Pseudohypoparathyroidism, Type Ia |
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Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossifica... |
OMIM:103580 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... |
ORPHA:79078 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Agitation, Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
Sarcoidosis, Susceptibility To, 1 |
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Anorexia, Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Weight loss, Arthritis, Inflammati... |
OMIM:181000 |
Prader-Willi Syndrome Due To Translocation |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, External ge... |
ORPHA:177907 |
Sotos Syndrome |
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Joint laxity, Aggressive behavior, Sparse eyebrow, High, narrow palate, Cryptorchidism, Patent du... |
OMIM:117550 |
Kleefstra Syndrome |
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Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Downturned corners of mou... |
ORPHA:261494 |
13Q12.3 Microdeletion Syndrome |
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Thin upper lip vermilion, Hyperactivity, Cryptorchidism, Obesity, Oligodontia, Camptodactyly, Fai... |
ORPHA:412035 |
Macrocephaly/Autism Syndrome |
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Joint laxity, Short attention span, Penile freckling, Large for gestational age, Obesity, Hydroce... |
OMIM:605309 |
Prolactinoma |
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Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
Igg4-Related Kidney Disease |
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Sterile pyuria, Lymphocytoma cutis, Tubulointerstitial nephritis, Abnormal ureter morphology, Sia... |
ORPHA:449395 |
Senior-Loken Syndrome 9 |
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Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ... |
OMIM:616629 |
Bardet-Biedl Syndrome 17 |
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Polydipsia, Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Cognitiv... |
OMIM:615994 |
Pseudohypoparathyroidism, Type Ic |
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Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hypogonadism, Low uri... |
OMIM:612462 |
Insulinoma |
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Primary hyperparathyroidism, Increased body weight, Neoplasm of the adrenal gland, Transient glob... |
ORPHA:97279 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Ganglioneuroblastoma, Aggressive behavior,... |
ORPHA:293987 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Obesity, Cleft palate, Choreoat... |
ORPHA:261197 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Esophageal varix, Increased body weight, Irregular menstruation, Polycystic ovaries... |
ORPHA:264580 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia |
ORPHA:363741 |
Angelman Syndrome |
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Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, Obesity, Wide mouth, Macroglossia, Pr... |
OMIM:105830 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
Bdv Syndrome |
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Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Micropenis |
OMIM:619326 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Irregular menstruation, Increased body weight, Osteoporosis, Polycystic ovaries, Re... |
ORPHA:79240 |
Congenital Myopathy 9A |
|
Akinesia, Cryptorchidism, Obesity, Tongue fasciculations |
OMIM:618822 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Pituitary Adenoma 4, Acth-Secreting |
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Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Abdominal obesity, Oligomenorrhea, Hir... |
OMIM:219090 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Obesity, Primary amenorrhea |
OMIM:600955 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Cryptorchidism, Sy... |
OMIM:616078 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Pseudohypoparathyroidism Type 1C |
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Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... |
ORPHA:79444 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Igg4-Related Ophthalmic Disease |
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Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphoma, Neoplasm of ... |
ORPHA:449563 |
Carney Complex |
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Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, N... |
ORPHA:1359 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Proteinuria, Progressive neurologic deterioration, Large for gestational age, Increased body weig... |
ORPHA:263455 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Dental crowding, Neoplasm, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive manne... |
ORPHA:353281 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Narcolepsy |
OMIM:604121 |
Distal Triplication 15Q |
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Abnormal external genitalia, Craniosynostosis, Large for gestational age, Birth length greater th... |
ORPHA:314588 |
Pseudohypoparathyroidism Type 1A |
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Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... |
ORPHA:79443 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic... |
ORPHA:96253 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... |
ORPHA:1501 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... |
ORPHA:110 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... |
ORPHA:247691 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre... |
ORPHA:251004 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... |
ORPHA:1772 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, High, narrow palate, Synophrys, Short philtrum, High palate, Tics, Compulsive beha... |
OMIM:619475 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Proportionate tall stature, Vesicoureteral reflux, Micropeni... |
ORPHA:96149 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deteriorati... |
ORPHA:646 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Dental crowding, Aganglionic megacolon, Ataxia, High, narrow palate, O... |
OMIM:209900 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Obesity, Renal hy... |
ORPHA:3138 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Sheehan Syndrome |
|
Dyspareunia, Decreased female libido, Reduced circulating prolactin concentration, Sparse axillar... |
ORPHA:91355 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Osteoporosis, Increased body weight, Hirsutism |
OMIM:615830 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Gait ataxia, Widely spaced teeth, Short philtrum, Sparse hair, Highly ... |
OMIM:280000 |
African Trypanosomiasis |
|
Alopecia, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the menstrual cycle... |
ORPHA:3385 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Pheoc... |
ORPHA:805 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Camptodactyly of finger, Limitation of joint mobility, Xerostomi... |
ORPHA:90340 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Rh... |
ORPHA:77301 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Curly hair, Sparse scalp hair, Hyperactivity, Joint laxity, Large for gestational ... |
OMIM:607721 |
1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Shyness, Abnormal eating behavior, Obesity, Wide mouth, Self-injurious behav... |
ORPHA:293948 |
Meningioma |
|
Urinary incontinence, Reduced circulating prolactin concentration, Neoplasm of the anterior pitui... |
ORPHA:2495 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Osteoporosis, Increased body weight, Abdominal obesity, Macrono... |
OMIM:615954 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Abnormal repetitive mannerisms, Generalized hirsutism, Abnormali... |
ORPHA:1606 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Co... |
OMIM:615989 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Tented upper lip vermilion, Small scrotum, External genital hypoplasia, Cryptorchidis... |
OMIM:614231 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Rectal prolapse, Dysmetria, Nephrocalcinosis, Compulsive behavio... |
ORPHA:904 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone develop... |
ORPHA:99226 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive ma... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive ma... |
ORPHA:353277 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Urinary incontinence, Narcolepsy, Mental deterioration, Memory impairment |
ORPHA:314404 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Small scrotum, Widely-spaced maxillary central incisors, High palate,... |
OMIM:309580 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, N... |
OMIM:267000 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Ataxia, Anorexia, Oral ulcer, Weight loss, Enlargement of parotid gland |
ORPHA:50918 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Small for gestational age, Abnormality of iron homeostasi... |
ORPHA:84064 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Increased body weight |
ORPHA:94086 |
Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bi... |
ORPHA:672 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Weight loss, Melanocytic nevus, Long... |
ORPHA:79430 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Leiomyosarcoma, Neoplasm, Vesicoureteral reflux,... |
ORPHA:116 |
Sarcoidosis |
|
Alopecia, Renal insufficiency, Abnormal reproductive system morphology, Bone cyst, Enlarged lacri... |
ORPHA:797 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Vici Syndrome |
|
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al... |
OMIM:242840 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ... |
OMIM:219800 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... |
OMIM:619488 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... |
ORPHA:64 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... |
ORPHA:818 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
Advanced Sleep Phase Syndrome, Familial, 1 |
|
|
OMIM:604348 |