Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis, Hypercalcemia |
OMIM:240150 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Cryptorchidism, Hypercalcemia, Micropenis |
OMIM:614732 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Low anterior hairline, Hypercalcemia, Cryptorchidism, Low posterior hairline |
OMIM:618440 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypocalcemia, Hypogonadism |
ORPHA:163693 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Oculocerebrodental Syndrome |
|
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia |
ORPHA:2591 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cafe-au-lait spot, Axillary freckling, Hypercalcemia |
OMIM:171420 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hirsutism, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Alopecia |
ORPHA:100025 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:177910 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails, Hypoalbuminemia, Decreased circulating copper concentration... |
OMIM:242150 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity |
OMIM:617119 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Nephrotic Syndrome, Type 14 |
|
Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism, Cryptorchidism |
OMIM:617575 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Acute Adrenal Insufficiency |
|
Sparse axillary hair, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin,... |
ORPHA:95409 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Hyperpigmentation of the ski... |
OMIM:175500 |
Addison Disease |
|
Sparse axillary hair, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin,... |
ORPHA:85138 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Cryptorchidism |
OMIM:618183 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures |
OMIM:241410 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Large cafe-au-lait macules with ir... |
ORPHA:249 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Hypospadias, Increased circulating farnesol concentration, Hypo... |
OMIM:618156 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Hypocalcemia, Long eyelashes |
OMIM:606407 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Mastocytosis |
|
Abnormality of skin pigmentation, Hypercalcemia |
ORPHA:98292 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Vitiligo, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Synophrys, Hypercalcemia |
ORPHA:476126 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Pheochromocytoma |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:171300 |
Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Elevated circulating creatine kinase concentration, Abnormal circula... |
ORPHA:88618 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Micropenis, Hypospadias, Cryptorchidism, Small scrotum |
OMIM:607143 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Infantile hypercalcemia, Uterine leiomyoma |
ORPHA:99880 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Hypospadias, Cryptorchidism, Red hair |
OMIM:614613 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F... |
ORPHA:2221 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Infantile hypercalcemia, Uterine leiomyoma |
ORPHA:143 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Horizontal eyebrow |
ORPHA:96168 |
Trichohepatoenteric Syndrome 1 |
|
Woolly hair, Sparse hair, Brittle hair, Generalized hypopigmentation, Hypospadias, Trichorrhexis ... |
OMIM:222470 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... |
ORPHA:100 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index |
OMIM:614450 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal fallopian tube morphology, Ab... |
ORPHA:1655 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Hypercalcemia |
ORPHA:369837 |
Dahlberg-Borer-Newcomer Syndrome |
|
Generalized hirsutism, Hypocalcemia, Anonychia |
ORPHA:1563 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Micropenis, Cryptorchidism |
OMIM:235255 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent... |
ORPHA:31824 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of... |
ORPHA:3440 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Hypopigmented skin patches, Alopecia |
ORPHA:47 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature gray... |
ORPHA:79477 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Multiple Endocrine Neoplasia, Type I |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:131100 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Joubert Syndrome 32 |
|
Large for gestational age, Tall stature |
OMIM:617757 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Hypoalbuminemia, Synophrys, Low po... |
OMIM:617303 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Whi... |
OMIM:613266 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Hypophosphatemic Rickets |
|
Multiple cafe-au-lait spots, Precocious puberty, Hypercalcemia, Hypophosphatemia |
ORPHA:437 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis |
OMIM:602361 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Irregular hyperpigmentation, Alopecia, Abnormal fingernail morpholo... |
ORPHA:428 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Multiple Endocrine Neoplasia Type 4 |
|
Testicular neoplasm, Hypercalcemia, Cervix cancer |
ORPHA:276152 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Small for gestational age |
OMIM:274300 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal reproductive system morphology |
ORPHA:70472 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Fair hair, Blue irides, Hypospadias, Hyperphosphatemia, Hypogonadism, Cryptorchidis... |
ORPHA:280651 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Nail dysplasia, Irregular hyperpigmentation, Abnormal circulating selenium concentration, Anonych... |
ORPHA:89842 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Alg12-Cdg |
|
Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Cryptorchidism, Low ... |
ORPHA:79324 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio... |
ORPHA:2298 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Hypercalcemia |
ORPHA:653 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Generalized reticulate brown pigmentation, Alopecia, Hypopigmentation of the skin, Depigmentation... |
ORPHA:79396 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Alopecia, Decreased prealbumin level, Abnormal blood ion concentrat... |
ORPHA:37042 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypogo... |
ORPHA:398079 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hirsutism, Cryptorchidism, Hypoalbuminemia |
OMIM:235510 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia |
ORPHA:79254 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Hypocalce... |
ORPHA:2237 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Micropenis |
OMIM:619487 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:612462 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Williams Syndrome |
|
Hypoplastic toenails, Precocious puberty, Hypoplasia of penis, Blue irides, Abnormal circulating ... |
ORPHA:904 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large for gestational age, Overgrowth, Small for gestational age |
ORPHA:254534 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis,... |
ORPHA:79444 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Aplasia/Hypoplasia of the nails, Crypt... |
ORPHA:163979 |
Sarcoidosis |
|
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypercalcemia, Abnormal re... |
ORPHA:797 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hyperpigmentation of the skin, Hypoalbuminemia, Abnormal circulati... |
ORPHA:186 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Sotos Syndrome |
|
Hydrocele testis, Hypopigmentation of the skin, Hypospadias, Phimosis, Hyperpigmentation of the s... |
ORPHA:821 |
Williams-Beuren Syndrome |
|
Small nail, Blue irides, Micropenis, Urethral stenosis, Hypercalcemia, Premature graying of hair,... |
OMIM:194050 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hyperbili... |
ORPHA:14 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrichosis, Abnormality of retinal pigmentation, Long eyelashes, Hypoalbuminemia, Thick hair |
ORPHA:505248 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Pigmentary retinopathy |
ORPHA:746 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:98754 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypopi... |
ORPHA:398069 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Alopecia |
OMIM:212750 |
Multiple Endocrine Neoplasia Type 1 |
|
Large cafe-au-lait macules with irregular margins, Hypercalcemia |
ORPHA:652 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:98793 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hypocalcemia, Fair hair, Micropenis, Hypospadias, Frontal upsweep of hair, Sep... |
OMIM:243800 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis,... |
ORPHA:79443 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:177904 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:177901 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Hypocalcemia |
OMIM:300712 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Elevated circulat... |
OMIM:137920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair |
OMIM:618541 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Hypoalbuminemia, De... |
OMIM:277900 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Hypoalbuminemia, Small nail |
OMIM:251300 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Prader-Willi Syndrome |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:739 |
Wilson Disease |
|
Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Prader-Willi Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Generalized hypopigmentation, Hypogo... |
OMIM:176270 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia, Fine hair, Nail dystrophy, ... |
OMIM:614748 |
Velocardiofacial Syndrome |
|
Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Obesity |
OMIM:194072 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Precocious puberty, Bicornuate uterus, Micropenis, Bifid scrotum, ... |
OMIM:270400 |
Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:398073 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Increased body weight |
ORPHA:263455 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Sparse hair, Sparse eyebrow, Abnormality of retinal pigmentation |
ORPHA:175 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:73224 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Koolen-De Vries Syndrome |
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Hypospadias, Cryptorchidism, Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Juvenile Polyposis Of Infancy |
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Freckled genitalia, Hypoalbuminemia |
ORPHA:79076 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia, Sparse hair, Short nail, Fine hair, Slow-growing hair, Thin nail |
OMIM:218330 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Obesity |
OMIM:618620 |
Pearson Syndrome |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Pigmentary retinopathy, Hyperpigment... |
ORPHA:699 |
Osteopetrosis, Autosomal Recessive 5 |
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Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypocalcemia, Unconjugated hyperbilirubinemia, Small scrotum, Hypoalbuminemia |
OMIM:613658 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... |
ORPHA:90363 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia,... |
OMIM:619991 |
Insulinoma |
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Increased body weight |
ORPHA:97279 |
Marburg Hemorrhagic Fever |
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Hypokalemia, Orchitis, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:99826 |
Ethylene Glycol Poisoning |
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Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411511 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh... |
ORPHA:238468 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Spotty hyperpigmentation, Abnormality of retinal pi... |
ORPHA:167 |
Von Hippel-Lindau Syndrome |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Floating-Harbor Syndrome |
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Hirsutism, Hypospadias, Glandular hypospadias, Varicocele, Long eyelashes, Congenital posterior u... |
OMIM:136140 |
Vici Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Penile hypospadias, Albi... |
OMIM:242840 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Syndromic Diarrhea |
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Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ... |
ORPHA:84064 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of hair texture, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Coarse hair, Hypopigmentation of hair, Dry hair, Shawl scrotum, Widow's peak |
ORPHA:1974 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
22Q11.2 Deletion Syndrome |
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Hypocalcemia, Hypospadias, Abnormality of the uterus, Cryptorchidism, Hypopigmented skin patches |
ORPHA:567 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of... |
ORPHA:163746 |
Sotos Syndrome |
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Increased body weight, Overgrowth, Tall stature |
OMIM:117550 |
Chediak-Higashi Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... |
OMIM:214500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98794 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Decreased testicular size |
ORPHA:93325 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Retinal pigment epitheli... |
OMIM:219800 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Sparse scalp hair, Hypomagnesemia, Hypocalcemia, Thick eyebrow, Hirsutism, Micropenis, Horizontal... |
OMIM:619503 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Hennekam Syndrome |
|
Hypocalcemia, Sparse axillary hair |
ORPHA:2136 |
Gitelman Syndrome |
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Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia |
ORPHA:358 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Osteopetrosis With Renal Tubular Acidosis |
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Elevated circulating creatine kinase concentration, Hypocalcemia |
ORPHA:2785 |
Degcags Syndrome |
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Chordee, Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Hyperbilirubinemia, ... |
OMIM:619488 |
Immunodeficiency 82 With Systemic Inflammation |
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Anoperineal fistula, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hype... |
OMIM:619381 |
Prader-Willi Syndrome Due To Translocation |
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External genital hypoplasia, Stellate iris, Hypopigmentation of the skin, Hypogonadotropic hypogo... |
ORPHA:177907 |
Hermansky-Pudlak Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Increased body weight |
ORPHA:189427 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Primary Pigmented Nodular Adrenocortical Disease |
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Abdominal obesity, Increased body weight |
ORPHA:189439 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Increased body weight, Failure to thrive |
ORPHA:264580 |
Visceral Steatosis, Congenital |
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Hypocalcemia |
OMIM:228100 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Smith-Lemli-Opitz Syndrome |
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Elevated 7-dehydrocholesterol, Hypoplasia of penis, Hypospadias, Hypopigmentation of hair, Ambigu... |
ORPHA:818 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Charge Syndrome |
|
Labial hypoplasia, Hypocalcemia, External genital hypoplasia, Micropenis, Hypogonadotropic hypogo... |
OMIM:214800 |
Floating-Harbor Syndrome |
|
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... |
ORPHA:2044 |
Digeorge Syndrome |
|
Hydrocele testis, Hypocalcemia, Ovarian cyst |
OMIM:188400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... |
OMIM:619534 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Menkes Disease |
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Hypopigmentation of hair, Woolly hair, Sparse hair |
ORPHA:565 |
Thymic Aplasia |
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Hypocalcemic tetany |
ORPHA:83471 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Cushing Disease |
|
Abdominal obesity, Increased body weight, Truncal obesity |
ORPHA:96253 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Hyperplastic labia majora, Hypoalbuminemia, Decreased testicular s... |
ORPHA:79318 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abdominal obesity, Increased body weight, Weight loss, Truncal obesity |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |