Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, R... |
OMIM:607624 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema... |
OMIM:300635 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Hypopigmentation of the skin, Decreased circulating total IgM |
OMIM:610798 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Villous atro... |
OMIM:209920 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased circulating IgG level, Inflammation of the large intes... |
ORPHA:98813 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... |
OMIM:613101 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... |
ORPHA:33445 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... |
OMIM:619281 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... |
OMIM:246700 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Inflammation ... |
OMIM:615767 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Hy... |
ORPHA:46487 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... |
OMIM:617638 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea |
OMIM:619398 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreas... |
OMIM:618394 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... |
ORPHA:90363 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Constipation, Secondary amenorrhea |
OMIM:301033 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Gemignani Syndrome |
|
Abnormal testis morphology, Hypopigmented skin patches |
ORPHA:2074 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... |
OMIM:615863 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea,... |
OMIM:614602 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... |
ORPHA:436159 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis |
OMIM:617006 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Bilateral cryptorchidism, Abnormality of hair pigme... |
OMIM:618156 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Rec... |
OMIM:619802 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... |
OMIM:614878 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Hypopig... |
ORPHA:177910 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... |
OMIM:301220 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... |
ORPHA:37042 |
Bloom Syndrome |
|
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Paronychia, Uveitis, Gastroes... |
ORPHA:125 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti... |
ORPHA:47 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natura... |
OMIM:616050 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... |
ORPHA:911 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infe... |
OMIM:240500 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Eczema, Blue irides, Hyperphenylalaninemia, Generalized hypopigme... |
OMIM:261600 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Abdominal pain, Ocular albinis... |
OMIM:203300 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Pyloric stenosis, Whi... |
ORPHA:381 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Feeding difficulties in infancy, High palate, Gastroesophageal reflux,... |
OMIM:610883 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Decreased fertility, Generalized hypopigmentation, Irregular hyperpi... |
ORPHA:1816 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Alg12-Cdg |
|
Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Recurrent ea... |
ORPHA:79324 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Vici Syndrome |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Feeding difficulties in in... |
ORPHA:1493 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, High palate, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Acholic stools, Hypoc... |
OMIM:607765 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hypopigmentation of the skin, Elevated ... |
OMIM:615980 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature grayin... |
ORPHA:79477 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bac... |
OMIM:607594 |
Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Interst... |
OMIM:616433 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ... |
ORPHA:90342 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Feeding difficulties in infancy, Hydrocele testis, Hypocholesterolemia |
OMIM:618810 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... |
OMIM:604416 |
Syndromic Diarrhea |
|
Dependency on intravenous nutrition, Hypopigmentation of hair, Brittle hair, Villous atrophy, Hep... |
ORPHA:84064 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Sepsis, Depigmentation/hyperpigmentation of skin, Generalize... |
ORPHA:79396 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Thick hair, Recurrent upper respiratory tract in... |
ORPHA:263501 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Feeding difficulties in infancy, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:411515 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, H... |
ORPHA:71 |
Classic Phenylketonuria |
|
Nausea and vomiting, Hypopigmentation of hair, Eczema, Hyperphenylalaninemia, Hypopigmentation of... |
ORPHA:79254 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch... |
ORPHA:83471 |
Bloom Syndrome |
|
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Cryptor... |
OMIM:210900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Primary amenorrhea, Hypocalcemia, Hypercholesterolemia, Hirsutism |
OMIM:612526 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Aganglionic megacolon, Synophrys, Blue irides, Hypopigmented skin patches, Prem... |
OMIM:148820 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Colitis, Bone marrow hypocellularity, ... |
OMIM:615190 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Hypopigmentation of hair, Decreased circulating antibody level,... |
ORPHA:100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bile acid concent... |
OMIM:619868 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hypertriglyceridemia, Diarrhea, Esophageal varix, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Dubowitz Syndrome |
|
Sparse scalp hair, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuff... |
OMIM:223370 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... |
OMIM:619381 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Elevated circulating creatine kinase ... |
OMIM:242840 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Pericarditis, F... |
OMIM:212065 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Hepatic failure, Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... |
ORPHA:894 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Recurrent infections, Feeding difficulties, Macrogloss... |
ORPHA:79321 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Sparse hair, Hypopigme... |
OMIM:309400 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R... |
OMIM:618935 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Feeding difficulties |
ORPHA:261304 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, High palate, Feeding difficulties |
ORPHA:254531 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Severe infection, Recurre... |
ORPHA:2686 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... |
ORPHA:1807 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition,... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Impaired T cell function, Chronic diarrhea, D... |
OMIM:614576 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Reduced natural killer cell activity, Recurrent pneumon... |
OMIM:608233 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Skin rash, Recurrent viral infections, Partial IgA deficiency, ... |
ORPHA:35078 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Decreased LDL choles... |
OMIM:615947 |
Temple Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Cleft palate, Feeding difficulties, Bifid uvula, High palat... |
OMIM:616222 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Abnormal blood ion concentration, Uveitis, Paralytic il... |
ORPHA:810 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Hypopigmented skin patches, Irregular hyperpigmentation, Abnormality... |
ORPHA:2584 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Chronic constipation, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... |
ORPHA:98795 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormal fingernail morp... |
ORPHA:678 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism, Abnormal platelet aggre... |
OMIM:614171 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Porphyria Variegata |
|
Hyponatremia, Abdominal pain, Abnormal circulating porphyrin concentration, Ileus, Constipation, ... |
ORPHA:79473 |
Kaufman Oculocerebrofacial Syndrome |
|
Intestinal malrotation, Feeding difficulties in infancy, Sparse eyebrow, Recurrent infections, Hi... |
OMIM:244450 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Chronic mucocutaneous candi... |
ORPHA:3453 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Inflammation of the large ... |
OMIM:301000 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... |
ORPHA:3440 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Cryptorchidism, Pyloric stenosis, Cleft palate, Feeding difficulties, High palate, Recurrent otit... |
ORPHA:96184 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Thyroiditis, Hepatocellular carcinoma, Hyperlipidemia, Diarrhea, Irregular ... |
ORPHA:79259 |
Al-Raqad Syndrome |
|
Chronic constipation, Hypopigmentation of the skin |
OMIM:616459 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... |
ORPHA:411511 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Impaired ADP-induced platelet aggregation, Recurrent upper respiratory tract infections... |
OMIM:614075 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Hypopigmented skin patches, Abnormality of skin pigmentation, Gastroesophage... |
ORPHA:220402 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Spotty hypopigmentation, A... |
ORPHA:1867 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hyperhomocystinemia, High palate, Hypermethioninemia, Hypopigmentation of the skin,... |
OMIM:236200 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Hypopigme... |
ORPHA:330064 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Celiac disease, Hypopigmented skin patches, Hypogonadism, Hashimoto thyroiditis |
ORPHA:3143 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Crypto... |
ORPHA:398079 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Amenorrhea, Low posterior... |
ORPHA:528 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Blepharitis, Hyperpigmentation of the skin |
ORPHA:158029 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Lactose intolerance, Cryptorchidism, Hypopigmented skin patches, Protuberant abdomen,... |
ORPHA:457485 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Hypopigmented skin patches |
ORPHA:3239 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis, Abn... |
ORPHA:525 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Recurrent infections, Abnormality of skin pigmentation, Decreased cir... |
OMIM:620040 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Chronic diarrhea, D... |
ORPHA:14 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... |
ORPHA:2221 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Anorex... |
ORPHA:79430 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morp... |
ORPHA:2457 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Feeding difficulties, Increased ... |
ORPHA:79237 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone ma... |
OMIM:620133 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Protruding tongue, Gastrostomy tube feeding in infancy... |
ORPHA:72 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Woolly hair, Hepatic failure, Fine hair, Decreased cir... |
OMIM:222470 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feedin... |
OMIM:176270 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Hyperuricemia, Hypercholesterolemia, Hirsutism |
ORPHA:77296 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Xerostomia, Primary a... |
ORPHA:398069 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... |
OMIM:615895 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Constipation, Dysph... |
ORPHA:98794 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Diarrhea,... |
ORPHA:79240 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Nasogastric tube feedi... |
ORPHA:2909 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Feeding difficulties, Gastroesophageal reflux, Hypopig... |
ORPHA:356961 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Premature ova... |
ORPHA:3261 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Gastroparesis, Cryptorchidism, Nasoga... |
ORPHA:739 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Blue irides, Hypopigmented... |
OMIM:613266 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Villous atrophy, Inflammatory abnormality of ... |
ORPHA:391487 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Ch... |
OMIM:619652 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hypertriglyceridemia, Villous atrophy, Necrotizing enterocolitis, Elevated ci... |
OMIM:619573 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... |
OMIM:617718 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Ocular albinism, Generalized hypopigmentation |
ORPHA:352723 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Diarrhea,... |
ORPHA:264580 |
Angelman Syndrome |
|
Protruding tongue, Feeding difficulties in infancy, Blue irides, Macroglossia, Constipation, Fair... |
OMIM:105830 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... |
ORPHA:98754 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Diarrhea, Function... |
ORPHA:221008 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Conjunctivitis, Abnormality of the nail, Blepharitis |
ORPHA:254478 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Synophrys, Velopharyngeal insufficiency, Constipation, Hypercholesterolemia |
OMIM:182290 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... |
ORPHA:98793 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Chronic diarrhea, Decreased circulating antibody leve... |
OMIM:300972 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... |
ORPHA:177901 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Gout, Xanthelasma, Recurrent bacterial infections, Inflammation of the large inte... |
OMIM:232220 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Hypopigmentat... |
ORPHA:454831 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Gastroesophageal reflux, Decreased liver function, Dysphagia, Gastrosto... |
ORPHA:70472 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... |
ORPHA:542323 |
Dyskeratosis Congenita |
|
White hair, Anorectal anomaly, Premature graying of hair, Periodontitis, Sparse hair, Alopecia, A... |
ORPHA:1775 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Recurrent viral infections, Atopic dermatitis, Membranous nephro... |
OMIM:618999 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... |
ORPHA:90038 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha... |
OMIM:614077 |
Hartnup Disease |
|
Glossitis, Skin rash, Malabsorption, Hypopigmented skin patches, Irregular hyperpigmentation, Inf... |
ORPHA:2116 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Scarring alope... |
ORPHA:95159 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Synophrys, Feeding difficulties, High palate, Hypopigmentation of the skin, Hirsu... |
OMIM:614969 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... |
ORPHA:3214 |
Thymoma |
|
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... |
ORPHA:99867 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Re... |
OMIM:600802 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abdominal pain, Minimal change glomerulonephritis, Peritonitis, Hypoalbumin... |
ORPHA:567548 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... |
OMIM:201475 |
Tangier Disease |
|
Abdominal pain, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia |
ORPHA:31150 |
Hyperlipoproteinemia, Type I |
|
Pancreatitis, Hyperlipidemia, Episodic abdominal pain, Lactescent serum, Vomiting, Increased circ... |
OMIM:238600 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, E... |
OMIM:278000 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feedin... |
ORPHA:177907 |
Muenke Syndrome |
|
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pr... |
OMIM:619488 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Alopecia totalis, Cryptorchidism, Diarrhea, Cleft palate, Functional abnormality of t... |
ORPHA:221016 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Increased fecal coproporphyrin 1, Conjunctivitis, El... |
OMIM:263700 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Abnormal circula... |
ORPHA:470 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... |
ORPHA:29207 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hypopigmentation of the skin, Increased stool urobilinogen c... |
ORPHA:79277 |
Intellectual Disability And Myopathy Syndrome |
|
Atopic dermatitis, Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Eczema, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotili... |
OMIM:270400 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Thick hair, Highly arched eyebrow |
ORPHA:401923 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Abnormal large... |
ORPHA:171 |
Crouzon Syndrome |
|
Conjunctivitis, Hypopigmented skin patches, Narrow palate, Melanocytic nevus |
ORPHA:207 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Abnormality of skin pigmentation, Inf... |
ORPHA:2908 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Hypopigmented skin patches, Uveitis, Arthritis, Patch... |
ORPHA:90289 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Feeding difficulties in infancy, Synophrys, Cleft palate, Gastroesophageal ... |
ORPHA:819 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Freckling, Conjunctivitis, Hypopigmentation of the skin |
OMIM:278720 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Ile... |
ORPHA:163746 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ... |
OMIM:300860 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Cryptorchidism, Fair hair, Blue irides |
OMIM:614613 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... |
ORPHA:90291 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections, G... |
OMIM:232240 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneumonia, Macroglos... |
OMIM:252500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... |
ORPHA:183 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, White hair, Fine hair, Ag... |
ORPHA:935 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... |
OMIM:619662 |
Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Adenomatous colonic polyposis, Adenocarcinoma of the small intestine, Adenoca... |
OMIM:276300 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Hypopigmented skin patches, Cleft palate, High palate, Hypopigmentation of the sk... |
ORPHA:96061 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Sparse hair, Hypogonadotropic hypogonadism, Sparse eyebrow, ... |
OMIM:129900 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratiti... |
ORPHA:906 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Hypopigmented skin patch... |
ORPHA:2067 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
White hair, Ocular albinism, High palate, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Galloway-Mowat Syndrome 7 |
|
Eczema, Minimal change glomerulonephritis, Cleft palate, High palate, Hypercholesterolemia |
OMIM:618348 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Aplasia/Hypoplasia of t... |
ORPHA:238468 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Feeding difficulties, High palate, Hypoalbuminemia, Small nail, Hypopigmentation o... |
OMIM:251300 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Abdominal pain, Diarr... |
ORPHA:79456 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol concentration, Xanth... |
OMIM:210250 |
Incontinentia Pigmenti |
|
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Skin rash, Supernumerary nipple... |
ORPHA:464 |
Cystinosis, Nephropathic |
|
Hyponatremia, Male infertility, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigm... |
OMIM:219800 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Bone... |
ORPHA:3322 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Hypopigmented skin patches |
ORPHA:182 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal... |
ORPHA:95455 |
Neuhauser Syndrome |
|
Low anterior hairline, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
Low Phospholipid-Associated Cholelithiasis |
|
Abdominal colic, Cholangitis, Sclerosing cholangitis, Neoplasm of the liver, Cholecystitis, Hepat... |
ORPHA:69663 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail |
ORPHA:1295 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Nail dystrophy, Small nail, Hypercholesterolemia, Decreased testicular size |
OMIM:610644 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches, Cleft palate, High palate, Anonychia, Aplasia/Hypop... |
ORPHA:1784 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Gout, Increase... |
ORPHA:412 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, High palate, Hypercholesterolemia, Mottl... |
OMIM:248370 |
Curry-Jones Syndrome |
|
Intestinal malrotation, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Fair hair, Alopecia, Eczema... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Fair hair, Alopecia, Eczema... |
ORPHA:363958 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Feeding difficulties in infancy, Periodontitis, Gastroesophageal reflux, Chronic o... |
ORPHA:534 |
Infantile Krabbe Disease |
|
Nasogastric tube feeding in infancy, Hypopigmented skin patches, Recurrent infections, Feeding di... |
ORPHA:206436 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Anal stenosis, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillar... |
OMIM:604292 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Osteomyelitis, Recurrent ear infections, Abdominal pain, High, narrow palate, Syno... |
OMIM:619475 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Lumbar hypertrichosis, R... |
ORPHA:163956 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cleft palate, Chronic constipation, Cholecystitis, Recurrent otitis media, Hypopigment... |
OMIM:301066 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:3121 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... |
ORPHA:90068 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hepatitis |
ORPHA:209902 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
High palate, Hypopigmentation of the skin |
OMIM:620237 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... |
ORPHA:3260 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... |
ORPHA:99413 |
Turner Syndrome |
|
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... |
ORPHA:99226 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:1647 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Keratitis, Xerostomia, Nail pits, Fine hair, Cleft palate, Inf... |
ORPHA:1896 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Short-segment aganglionic megacolon, Crypt... |
OMIM:609136 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Menorrhagia |
ORPHA:331 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Vomiting, Nausea |
ORPHA:90065 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse scalp hair, Sparse eyebrow, Spotty hypopigmentation, Recurrent infections, Spotty hyperpig... |
OMIM:615789 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait sp... |
ORPHA:2637 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Iris transillumination defect |
OMIM:617306 |
Harrod Syndrome |
|
Cryptorchidism, High palate, Hypopigmented skin patches |
ORPHA:2115 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Nausea and vomiting, Fatal liver failure in infancy, Hypertriglyceridemia, Abdomina... |
ORPHA:275761 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Feeding difficulties in infancy, Cryptorch... |
ORPHA:96169 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Intestinal malrotation, Supernumerary nipple... |
OMIM:305600 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Hypermelanotic macule, Pneumonia, Hypopigmented skin patches on... |
OMIM:607944 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Low anterior hairline, Hirsuti... |
OMIM:617137 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cleft soft palate, Intestinal malrotation, Hypoplasia of the ovary, Azotemia, Generaliz... |
OMIM:619321 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hypercholester... |
OMIM:151660 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Macroorchidism, Hypercholesterolemia... |
ORPHA:90674 |
Fanconi Anemia |
|
Meckel diverticulum, Recurrent urinary tract infections, Aganglionic megacolon, Aplasia/Hypoplasi... |
ORPHA:84 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Hepatic failure, High palate, Hyperbilirubinemia |
OMIM:606812 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Eczema, Pustule, Xerostomia, Hypopigmented skin patche... |
ORPHA:2907 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin pa... |
ORPHA:2896 |
Pemphigus Erythematosus |
|
Malar rash, Hypopigmented skin patches |
ORPHA:79480 |
Xeroderma Pigmentosum |
|
Alopecia, Hypermelanotic macule, Keratitis, Cryptorchidism, Hypopigmented skin patches, Melanocyt... |
ORPHA:910 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, In... |
OMIM:181000 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Hypertriglyceridemia, Prem... |
ORPHA:79474 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Anorectal anomaly, Hypopigmented skin pat... |
ORPHA:233 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmented skin patches |
ORPHA:2715 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Gout, Hyperproteinemia, Increased circulating renin level, Hy... |
ORPHA:90041 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Alopecia, Maculopapular exanthema, Hypercalcemia, Paro... |
ORPHA:797 |
Menkes Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Malabs... |
ORPHA:565 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Acne, Impaired T cell function, Aganglionic megacolon, Intestinal ma... |
ORPHA:567 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Cleft palate, Depigmentation/hyperpigmentation of skin, Chronic constipation, Hyp... |
ORPHA:1724 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Cryptorchidism, Pyl... |
ORPHA:818 |
Steinert Myotonic Dystrophy |
|
Alopecia, Hypergonadotropic hypogonadism, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagi... |
ORPHA:273 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Cleft palate |
ORPHA:90354 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Increased HDL cholesterol concentration, Elev... |
ORPHA:70591 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Diarrhea, Feeding difficulties, Pigmentary retinopathy, ... |
OMIM:606721 |
Mend Syndrome |
|
Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation... |
ORPHA:401973 |
Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Periodontitis, Dysphagi... |
OMIM:173650 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... |
ORPHA:636 |
Mowat-Wilson Syndrome |
|
Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism, Decreased... |
ORPHA:2152 |
Sotos Syndrome |
|
Aganglionic megacolon, Hypercalcemia, Sparse anterior scalp hair, Cryptorchidism, Decreased ferti... |
ORPHA:821 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Fee... |
ORPHA:2556 |
Tetragametic Chimerism |
|
Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches |
ORPHA:199310 |
Familial Tumoral Calcinosis |
|
Skin rash, Hypopigmented skin patches |
ORPHA:53715 |
Cowden Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus, Hamartomatous polyposis, Furrowed tongue, Macroglo... |
ORPHA:201 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair, High palate |
ORPHA:1974 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Pigmentary retinopathy, Hepatocellular carcinoma, Hypercholesterolemia, Hep... |
OMIM:118450 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... |
OMIM:210720 |
Pallister-Killian Syndrome |
|
Hyperpigmented streaks, Anteriorly placed anus, Hypopigmented streaks, Sparse hair, Hypopigmentat... |
OMIM:601803 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpigmentation, Cleft palate, High... |
ORPHA:3063 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... |
OMIM:309000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Recurrent respiratory infections, Conjugated hyperbilirubinemia, Increased circulating ferritin c... |
OMIM:619534 |
Mend Syndrome |
|
Cryptorchidism, High palate, Spotty hypopigmentation |
OMIM:300960 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
|
OMIM:618392 |