| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Diarrhea, Accumulation of lipid droplets in small-bowel enteroc... |
OMIM:246700 |
| Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Chronic diarrhea, Growth delay, Failure to thrive, Fat ma... |
OMIM:613291 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Hypotrichosis 1 |
|
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... |
OMIM:605389 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Increased adipose tissue, Polyphagia, Obesity |
ORPHA:71529 |
| Secondary Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Aganglionic megacolon, Abnormal blood ion concentration, Diarr... |
ORPHA:95427 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Congenital Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... |
OMIM:615237 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Polyphagia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Polyphagia,... |
ORPHA:71526 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Steatorrhea, Fat malabsorption, Increased serum bile acid concentration |
OMIM:607748 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Hyperlipidemia, Vomiting, Failure to thrive, Hypoalbuminemi... |
OMIM:615863 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ... |
ORPHA:2070 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia |
ORPHA:55654 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Hypotrichosis 10 |
|
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow |
OMIM:614238 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Polyphagia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... |
OMIM:615059 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Obesity And Hypopigmentation |
|
Obesity, Red hair, Polyphagia |
OMIM:620195 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Polyphagia, Short stature, Obesity, Feeding difficulties in infancy |
ORPHA:177910 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Hirsutism, Short stature, Reduced ... |
OMIM:612526 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Diarrhea, Failure to thrive, Conjugated hyperbilirubinemia, Acholic stools, Hypochol... |
OMIM:607765 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... |
ORPHA:2722 |
| Hypotrichosis 4 |
|
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia |
OMIM:146550 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... |
ORPHA:92050 |
| Wolman Disease |
|
Abdominal distention, Steatorrhea, Cachexia, Nausea and vomiting, Esophageal varix, Growth delay,... |
ORPHA:75233 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Feeding dif... |
ORPHA:411515 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Obesity, Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Joubert Syndrome 10 |
|
Tube feeding, Hirsutism, Decreased body weight, Polyphagia, Frequent temper tantrums, Short statu... |
OMIM:300804 |
| Chylomicron Retention Disease |
|
Abdominal distention, Steatorrhea, Diarrhea, Growth delay, Failure to thrive, Vomiting, Hypochole... |
ORPHA:71 |
| 2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Growth delay, Short stature, Constip... |
ORPHA:228402 |
| 14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Feeding dif... |
ORPHA:261229 |
| Celiac Disease, Susceptibility To, 1 |
|
Delayed puberty, Postnatal growth retardation, Steatorrhea, Abdominal distention, Recurrent aphth... |
OMIM:212750 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Diarrhea, Increased L... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Diarrhea, Vomiting, Failure to thrive, ... |
OMIM:602579 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Failure to thrive, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Diarrhea, Hyperbilirubinemia, Failure to thrive, Hepatic failure |
OMIM:235555 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Short stature, Steatorrhea, Exocrine pancreatic insufficiency, Feeding difficulties in infancy |
OMIM:618752 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Poor suck, Polyphagia, Impulsivity, Camptodactyly, Short stature, Consti... |
OMIM:615547 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
| Huntington Disease |
|
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol... |
ORPHA:399 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Knee flex... |
OMIM:606242 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Obesity, Hyperlipidemia, Polyphagia |
OMIM:617885 |
| Temple Syndrome |
|
Postnatal growth retardation, Polyphagia, Short stature, Feeding difficulties in infancy, Obesity... |
ORPHA:254516 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Malnutrition, Failure to thrive, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia, Motor stereotypy |
OMIM:613886 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentra... |
ORPHA:79303 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Poor suck, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Small nail, Spar... |
ORPHA:189 |
| Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Hypertriglyceridemia, Lipoatrophy, Hypoplastic fingernail, Abnormal... |
ORPHA:2457 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia, Polyphagia, Obesity, Decreased circulating cortisol level |
OMIM:609734 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption |
ORPHA:309108 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level, Feeding difficulties... |
ORPHA:324575 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia |
OMIM:617119 |
| Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Polyphagia |
ORPHA:163690 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Obesity, Polyphagia, Aggressive behavior |
OMIM:616521 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Long eyebrows, Long eyelashes, Severe short stature, Sparse hair, Small for gest... |
OMIM:275400 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level, Feeding difficulties... |
ORPHA:276556 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse h... |
ORPHA:1818 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia |
OMIM:618406 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
| Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea, Hypolipidemia |
OMIM:617308 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Cachexia, Chronic diarrhea, Malabsorption |
ORPHA:3217 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level, Feeding difficulties... |
ORPHA:276575 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Hypocalcemia, Polyphagia, Long eyelashes, Failure to thrive, Feedin... |
OMIM:606407 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Diarrhea, Chronic diarrhea, Bloody diarrhea,... |
OMIM:614602 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy |
OMIM:172700 |
| Congenital Short Bowel Syndrome |
|
Lipoatrophy, Intestinal hypoplasia, Short stature, Intestinal malrotation, Sparse hair |
ORPHA:2301 |
| Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Obesity, Polyphagia |
ORPHA:369873 |
| Kleine-Levin Syndrome |
|
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Nausea, Poor appetite, Repetitive co... |
ORPHA:33543 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia |
ORPHA:505 |
| Leptin Deficiency Or Dysfunction |
|
Obesity, Polyphagia |
OMIM:614962 |
| Leptin Receptor Deficiency |
|
Delayed puberty, Polyphagia, Short stature, Obesity, Abnormal eating behavior, Aggressive behavior |
OMIM:614963 |
| Trichohepatoneurodevelopmental Syndrome |
|
Decreased liver function, Steatorrhea, Increased serum bile acid concentration, Gastroesophageal ... |
OMIM:618268 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, High palate, Short stature, Obesity, Bifid uvula, Cle... |
OMIM:616222 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Growth delay, Sparse hair, Neonatal hyperbilirubinemia, Small for gestational age... |
ORPHA:3363 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Steatorrhea, Diarrhea, Hyperbilirubinemia, Failure to thrive, Hematochezia, Acholic stools, Hepat... |
OMIM:613812 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Synophrys... |
OMIM:182290 |
| Infantile Systemic Hyalinosis |
|
Steatorrhea, Abnormality of the gastrointestinal tract, Chronic diarrhea, Growth delay, Failure t... |
ORPHA:2176 |
| Moynahan Syndrome |
|
Short stature, Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
| Pseudoprogeria Syndrome |
|
Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Failure to thrive, Sparse ... |
ORPHA:2985 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia |
OMIM:617294 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Failure to thrive, Sparse body hair, Intrauterine growth retardation, Truncal obesity |
ORPHA:261483 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Sparse body hair, Obesity |
ORPHA:85274 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Nail dystrophy, Abnormal hair morphology, Abnormality of the nail, Onychogryposis of toenails, Sp... |
ORPHA:1808 |
| Cog4-Cdg |
|
Intermittent diarrhea, Thick hair, Growth delay, Recurrent infection of the gastrointestinal trac... |
ORPHA:263501 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Abdominal distention, M... |
ORPHA:275761 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level, Feeding difficulties |
ORPHA:276580 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, High palate, Polyphagia, Thick eyebrow, F... |
OMIM:618774 |
| Trisomy 18P |
|
High, narrow palate, Highly arched eyebrow, Polyphagia, Short stature, Pyloric stenosis, Attentio... |
ORPHA:1715 |
| Woolly Hair, Autosomal Recessive 3 |
|
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair |
OMIM:616760 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Graves Disease |
|
Hyperactivity, Onycholysis, Polyphagia, Weight loss |
OMIM:275000 |
| Isolated Sedoheptulokinase Deficiency |
|
Steatorrhea, Inguinal hernia, Severe postnatal growth retardation, Short stature, Flexion contrac... |
ORPHA:440713 |
| Hawkinsinuria |
|
Failure to thrive, Fine hair, Sparse hair, Abnormal circulating tyrosine concentration |
ORPHA:2118 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Low posterior hairline, Failure to thrive, Increased C-peptide level, Low a... |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Diarrhea, Vomiting, Failure to thrive... |
OMIM:212065 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Polyphagia, Obesity, Feeding difficulties, Overfriendliness, Attention deficit hyperactivity diso... |
OMIM:620439 |
| Cronkhite-Canada Syndrome |
|
Anorexia, Hypoplastic toenails, Dystrophic fingernails, Intestinal polyposis, Stomach cancer, Dia... |
ORPHA:2930 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea, Decreased circulating chenodeoxycholic acid concentration |
OMIM:619481 |
| Heyn-Sproul-Jackson Syndrome |
|
Intrauterine growth retardation, Decreased body weight, Severe short stature, Sparse hair |
OMIM:618724 |
| Man1B1-Cdg |
|
Abnormal position of hair whorl, Long eyebrows, Polyphagia, Long eyelashes, Sparse eyebrow, Trunc... |
ORPHA:397941 |
| Luscan-Lumish Syndrome |
|
High anterior hairline, Hirsutism, Polyphagia, Short stature, Obesity, Aggressive behavior |
OMIM:616831 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Diarrhea, Vomiting, Hypophosphatemia, Increased circulating free fatty acid level |
OMIM:605911 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia |
OMIM:222100 |
| Somatostatinoma |
|
Anorexia, Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of... |
ORPHA:97283 |
| Angelman Syndrome |
|
Gastrostomy tube feeding in infancy, Abnormality of the gastrointestinal tract, Tongue thrusting,... |
ORPHA:72 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Postnatal growth retardation, High palate, Obesity, Feeding difficulties, Intrauterine growth ret... |
ORPHA:254531 |
| Pancreatic Agenesis 2 |
|
Steatorrhea, Exocrine pancreatic insufficiency, Small for gestational age |
OMIM:615935 |
| Frontotemporal Dementia |
|
Inappropriate laughter, Disinhibition, Polyphagia |
OMIM:600274 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Camptodactyly of finger, Severe short stature, Ridged fingernail, S... |
ORPHA:2251 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Postnatal growth retardation, Hypercholesterolemia, High palate, Short stature, Pyloric stenosis,... |
ORPHA:96184 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... |
ORPHA:3361 |
| Glucagonoma |
|
Anorexia, Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Stomatitis, Glossitis... |
ORPHA:97280 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Generalized lipodystrophy, Small for gestational age, Congenital generalized lipodystrophy, Short... |
OMIM:608154 |
| Progeroid Syndrome, Petty Type |
|
Lipoatrophy, Brittle hair, Abnormal hair morphology, Abnormality of the nail, Short stature, Fail... |
ORPHA:2963 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... |
ORPHA:470 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
| Hypotrichosis 7 |
|
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly... |
OMIM:604379 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Steatorrhea, Villous atrophy, Chronic diarrhea, Hyperbilirubinemia, Vomiting, Failure t... |
OMIM:557000 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
| Abetalipoproteinemia |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Chronic diarrhea, Hype... |
ORPHA:14 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Polyphagia |
OMIM:615986 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sp... |
ORPHA:79133 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Postnatal growth retardation, Gastroesophageal reflux, Highly arched eyebrow, Macroglossia, Recur... |
OMIM:156200 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity, Polyphagia |
ORPHA:66628 |
| Angioma Serpiginosum, X-Linked |
|
Nail dystrophy, Fine hair, Sparse hair |
OMIM:300652 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Loss ... |
OMIM:151660 |
| Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Diarrhea, High palate, Short stature, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:617941 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair |
OMIM:618625 |
| Prader-Willi Syndrome |
|
Delayed puberty, Hypertriglyceridemia, Self-injurious behavior, Decreased HDL cholesterol concent... |
OMIM:176270 |
| Fg Syndrome 3 |
|
Hyperactivity, Pyloric stenosis, Joint contracture, Feeding difficulties, Sparse hair, Chronic co... |
OMIM:300406 |
| Monilethrix |
|
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... |
ORPHA:573 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity, Polyphagia |
ORPHA:179494 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hirsutism, Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia, Distichiasis, Low anterior hairline, Sparse hair, Absent lower eyelashes |
OMIM:227260 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of hair, Gastroesophageal reflux, Increased body weigh... |
ORPHA:398069 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Inguinal hernia, Fine hair, Sparse hair |
ORPHA:1174 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Thick hair, Highly arched eyebrow, Short stature, Overweight, Hypercholesterolemia |
ORPHA:401923 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Growth delay, Exocrine pancreatic in... |
ORPHA:309031 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair |
OMIM:619692 |
| Primary Biliary Cholangitis |
|
Gastrointestinal inflammation, Xanthelasma, Steatorrhea, Abdominal distention, Abnormal circulati... |
ORPHA:186 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Short stature, Failure to thrive, Exocrine pancreatic insufficiency, Small for gesta... |
OMIM:260400 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Hypertriglyceridemia, Gastroesophageal reflux, Synophrys, Short stature, Constip... |
ORPHA:819 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Scarring alopecia of scalp, Atrophic scars, Growth delay, Enamel hypoplasia, Spar... |
ORPHA:79402 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Failure to thrive, Feeding difficulties, Sparse hair, Aplasia/Hypoplasia of the eyeb... |
ORPHA:261304 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Postnatal growth retardation, Steatorrhea, Short stature, Failure to thrive, Ach... |
OMIM:616263 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter, Sparse hair |
OMIM:615074 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Postnatal growth retardation, Calcinosis, Onychogryposis, Increased facial adipose tissue, Loss o... |
OMIM:248370 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, ... |
ORPHA:98793 |
| Monilethrix |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia |
OMIM:158000 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, ... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, ... |
ORPHA:177901 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Low posterior hairline, Short stature, Obesity, Sparse facial hair, Absent f... |
ORPHA:2183 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Abnormal temper tantrums, Hypopigmentation of hair, Gastroparesis, Polyphagia, S... |
ORPHA:98754 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Steatorrhea, Exocrine pancreatic insufficiency, Alopecia |
OMIM:269200 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, High palate, Polyphagia, Feeding difficulties in infancy, Cleft pal... |
ORPHA:251028 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Postnatal growth retardation, Elevated circulating creatine kinase concentration, Synophrys, Shor... |
OMIM:611091 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, Feeding difficulti... |
ORPHA:79237 |
| Adnp Syndrome |
|
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Gastroesophageal ref... |
ORPHA:404448 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... |
ORPHA:86816 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Filippi Syndrome |
|
Postnatal growth retardation, Decreased body weight, Frontal hirsutism, Sparse hair, Intrauterine... |
OMIM:272440 |
| Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Sparse hair, Fine hair, Odontodysplasia |
OMIM:601453 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair |
OMIM:129490 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of hair, Polyphagia, Failure to thrive, Obesity, Skin-... |
ORPHA:398079 |
| Hypotrichosis 9 |
|
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse eyebrow, Sparse b... |
OMIM:614237 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Hyperactivity, Nausea and vomiting, Diarrhea, Polyphagia, Failure to thrive, Intraute... |
ORPHA:525731 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Short stature, Growth delay, Sparse body hair, Flexion contracture, Aplasia/Hy... |
ORPHA:2850 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair |
OMIM:234030 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Cleft palate, C... |
ORPHA:2890 |
| Laron Syndrome |
|
Delayed puberty, Hypercholesterolemia, Severe short stature, Truncal obesity |
ORPHA:633 |
| Schopf-Schulz-Passarge Syndrome |
|
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... |
OMIM:224750 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor |
OMIM:619170 |
| Insulinoma |
|
Increased body weight, Zollinger-Ellison syndrome, Polyphagia |
ORPHA:97279 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... |
OMIM:614931 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Short stature, Growth delay, Sparse hair, Abdominal obesity |
ORPHA:631 |
| Pearson Syndrome |
|
Postnatal growth retardation, Steatorrhea, Hypokalemia, Hypocalcemia, Chronic diarrhea, Poor suck... |
ORPHA:699 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Increased blood urea nitrogen, Sh... |
ORPHA:251004 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Short stature, Coarse hair, Ankle flexion contracture, Sparse hair |
OMIM:619985 |
| Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circu... |
OMIM:144650 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... |
ORPHA:247598 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| 2Q32Q33 Microdeletion Syndrome |
|
High palate, Short stature, Growth delay, Cleft palate, Feeding difficulties, Sparse hair, Attent... |
ORPHA:251019 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... |
OMIM:602032 |
| Shwachman-Diamond Syndrome |
|
Steatorrhea, Abnormality of the gastrointestinal tract, Increased serum bile acid concentration, ... |
ORPHA:811 |
| Crandall Syndrome |
|
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia |
ORPHA:202 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na... |
ORPHA:1433 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Constipation, High, narrow palate, Sparse hair, Umbilical hernia |
OMIM:273390 |
| Cystic Fibrosis |
|
Steatorrhea, Rectal prolapse, Diarrhea, Meconium ileus, Failure to thrive, Exocrine pancreatic in... |
OMIM:219700 |
| Bazex-Dupré-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... |
ORPHA:113 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow |
OMIM:616099 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Short stature, Flexion contracture, Sparse hair, Intrauterine growth ... |
OMIM:617396 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair patter... |
ORPHA:3051 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
High palate, Failure to thrive, Flexion contracture, Dysphagia, Sparse hair |
OMIM:620001 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Hirsutism, Polyphagia, Reduced subcutaneous adipose tissue, Lipodystrophy, ... |
OMIM:608594 |
| Trichothiodystrophy 1, Photosensitive |
|
Trichorrhexis nodosa, Nail dystrophy, Intestinal obstruction, Brittle hair, Small nail, Chronic d... |
OMIM:601675 |
| Cystic Fibrosis |
|
Steatorrhea, Decreased body mass index, Rectal prolapse, Gastroesophageal reflux, Meconium ileus,... |
ORPHA:586 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Plantar flexion contracture, Growth delay, Short stature, Bifid uvula, Spars... |
ORPHA:2872 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, High palate, Polyphagia, Long ey... |
ORPHA:96121 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, High anterior hairline, High palate, Short stature, Sparse hair,... |
ORPHA:284180 |
| Witkop Syndrome |
|
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... |
OMIM:189500 |
| Auriculocondylar Syndrome 2B |
|
Postnatal growth retardation, Synophrys, Omphalocele, Failure to thrive, Feeding difficulties, Sp... |
OMIM:620458 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Gastroparesis, Poor suck, Polyphagia, Short stature, Failure to thrive,... |
ORPHA:739 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Hirsutism, Polyphagia, Reduced subcutaneous adipose tissue, Elevated hemogl... |
OMIM:269700 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Short stature, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
| Weaver Syndrome |
|
Thin nail, Inguinal hernia, Polyphagia, Camptodactyly, Deep-set nails, Sparse hair, Umbilical her... |
OMIM:277590 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Episodic vomiting, Inguinal hernia, Short stature, Failure to thrive, Hyperammonemia, Hypoornithi... |
OMIM:219150 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... |
OMIM:608612 |
| Cardiofaciocutaneous Syndrome 2 |
|
High palate, Absent eyebrow, Curly hair, Sparse hair, Fine hair |
OMIM:615278 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f... |
ORPHA:1809 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior |
OMIM:612469 |
| Shukla-Vernon Syndrome |
|
Impulsivity, Motor stereotypy, Sparse hair, Attention deficit hyperactivity disorder, Aggressive ... |
OMIM:301029 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... |
OMIM:602400 |
| Sapho Syndrome |
|
Steatorrhea, Chronic diarrhea, Abdominal pain, Inflammation of the large intestine, Enthesitis, M... |
ORPHA:793 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Decreased adipose tissue around neck, Diarrhea, Loss of subcutaneous adipos... |
OMIM:606721 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Dysphagia, Sparse hair, Feeding difficulties, Intrauterine growth retardation, Sm... |
OMIM:618253 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
OMIM:242150 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hepatocellular carcinoma, Decreased body weight, Elbow flexion contrac... |
OMIM:616200 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Sparse body hair, Intrauterine growth retardation, Abdominal obesity, Small for ge... |
OMIM:300869 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Joint contracture of the 5th finger, Brittle hair, Short stature, Camptodactyly of finger, Sparse... |
ORPHA:1883 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Diarrhea, Increased body weight, E... |
ORPHA:264580 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Absent eyebrow, S... |
ORPHA:363618 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Delayed puberty, Severe postnatal growth retardation, Decreased body weight, Synophrys, Proportio... |
ORPHA:391408 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Distichiasis, Anal atresia, Sparse lateral eyebrow, Abnormal hair pattern,... |
ORPHA:1807 |
| Hawkinsinuria |
|
Failure to thrive, Restlessness, Sparse hair, Hypertyrosinemia |
OMIM:140350 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... |
OMIM:613102 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair |
OMIM:618535 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy... |
ORPHA:85451 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Chronic diarrhea, Tiger tail banding, Short stature, Sparse eyeb... |
OMIM:300953 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia, Short stature, Sparse eyebrow, Sparse hair |
ORPHA:884 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Failure to thrive, Sparse hair, Oral leukoplakia, Intrauterine growth retardation... |
OMIM:616353 |
| Hypotrichosis 12 |
|
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... |
OMIM:615885 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:104100 |
| Pancreatitis, Hereditary |
|
Abdominal pain, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:167800 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male... |
ORPHA:168563 |
| Helsmoortel-Van Der Aa Syndrome |
|
High anterior hairline, High, narrow palate, Episodic vomiting, Gastroesophageal reflux, Hyperact... |
OMIM:615873 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Postnatal growth retardation, Hypertriglyceridemia, Hepatocellular adenoma, Diarrhea, Increased b... |
ORPHA:79240 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Camptodactyly of finger, Sparse hair, Intrauterine growth retardation, Small for ge... |
OMIM:610756 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, High palate, Anal atresia, Synophrys, Severe short stature, Sparse hair |
OMIM:616854 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
| Neuhauser Syndrome |
|
High palate, Short stature, Bifid uvula, Low anterior hairline, Dysphagia, Hypercholesterolemia |
OMIM:249310 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality |
OMIM:607485 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Hepatocellular carcinoma, Short stature, Failure to thrive, Conjugated hyperbilirubinem... |
OMIM:601847 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
| Chromosome 5P13 Duplication Syndrome |
|
High palate, Compulsive behaviors, Low posterior hairline, Sparse hair, Motor stereotypy, Self-in... |
OMIM:613174 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Delayed puberty, Short stature, Growth delay, Sparse hair, Intrauterine growth retardation, Fine ... |
OMIM:616817 |
| Localized Junctional Epidermolysis Bullosa |
|
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Atypical ... |
ORPHA:251393 |
| Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Fine hair, Alopecia |
ORPHA:1839 |
| Desbuquois Syndrome |
|
Disproportionate short-limb short stature, Abnormal eyelash morphology, Camptodactyly of finger, ... |
ORPHA:1425 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse body hair, Sparse hair |
ORPHA:1810 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Anal atresia, Sparse hair |
OMIM:119580 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Growth delay, Failure to thrive, Constipation, ... |
ORPHA:90674 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Postnatal growth retardation, Abnormal subcutaneous fat tissue distribution, Thick hair, Inguinal... |
ORPHA:357074 |
| Dermoodontodysplasia |
|
Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia, Trichodysplasia |
ORPHA:1660 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Short stature, Sparse eyebrow, Sparse hair |
OMIM:619989 |
| 19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Sparse or absent eyelashes, Cachexia, Sparse lateral eyebrow, Failure to thrive, ... |
ORPHA:217346 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha... |
OMIM:234050 |
| Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Trichoepithelioma, Furrowed tongue, Sparse hair, Pili torti, Coarse hair |
OMIM:301845 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ... |
OMIM:278150 |
| Hypotrichosis 13 |
|
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology |
OMIM:615896 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Postnatal growth retardation, Nail dysplasia, Inguinal hernia, Sparse eyelashes, Failure to thriv... |
OMIM:613026 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Absent eyebrow, Failure to thrive, Cleft palate, Severe short stature, Sparse h... |
ORPHA:2316 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... |
OMIM:604536 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Nail dystrophy, Chronic diarrhea, Growth delay, Failure to thrive, Inflammation of the large inte... |
ORPHA:98813 |
| Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Brittle hair, Short stature, Sparse hair, Intr... |
OMIM:309400 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Aredyld Syndrome |
|
Lipoatrophy, Cachexia, Abnormal dental enamel morphology, Short stature, Sparse body hair, Aplasi... |
ORPHA:1133 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Polydipsia, Hyperlipidemia, Compulsive behaviors, Polyphagia, Short stature, Hyp... |
ORPHA:293987 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Hypoproteinemia, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Fanconi Anemia, Complementation Group S |
|
Narrow palate, Long eyelashes, Short stature, Failure to thrive, Low anterior hairline, Sparse hair |
OMIM:617883 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Scarring alopecia of scalp, Abnormal dental enamel morphology, Sparse scalp hair, Sparse eyelashe... |
ORPHA:59303 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal dental enamel morphology, Abnormal fingernail morphology, Abnormal toenail m... |
ORPHA:1515 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hyperconvex nail, Gastroesophageal reflux, Short stature, Failure to thrive, Chronic constipation... |
OMIM:619721 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Abdominal symptom, Hypocalcemia, Polyphagia, Short stature, En... |
ORPHA:79444 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Eunuchoid habitus, Sparse body hair, Obesity |
ORPHA:2234 |
| Short Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Poor appetite, Severe short stature, Lipodyst... |
ORPHA:3163 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Compulsive behaviors, Low posterior hairline, Synophrys, Thin eyebrow, Sparse hair, Attention def... |
OMIM:619320 |
| 1P36 Deletion Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Abnormal intestine morphology, Abnormality of the anus... |
ORPHA:1606 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Postnatal growth retardation, Diarrhea, Decreased body weight, Elevated circulating creatine kina... |
ORPHA:96180 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair |
OMIM:211390 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Short stature, Failure to thrive, Conjugated hyperbilirubinemia, Fat malabsorption |
OMIM:211600 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Sparse eyelashes, Sparse lateral eyebrow, Short stature, Low anterior hairli... |
ORPHA:1787 |
| Reynolds Syndrome |
|
Hyperbilirubinemia, Steatorrhea, Calcinosis, Gastrointestinal hemorrhage |
OMIM:613471 |
| Noonan Syndrome 6 |
|
Long eyebrows, Low posterior hairline, Curly hair, Short stature, Growth delay, Feeding difficult... |
OMIM:613224 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... |
OMIM:129400 |
| Craniopharyngioma |
|
Delayed puberty, Postnatal growth retardation, Polyphagia, Proportionate short stature, Growth de... |
ORPHA:54595 |
| Bainbridge-Ropers Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Tube feeding, Highly arched ... |
OMIM:615485 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Delayed puberty, Brittle hair, Compulsive behaviors, Short stature, Attention deficit hyperactivi... |
OMIM:618891 |
| Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Absent eyebrow |
ORPHA:1897 |
| Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... |
OMIM:210250 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Col... |
OMIM:608615 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogo... |
OMIM:235200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia, Small nail |
OMIM:610644 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| White-Sutton Syndrome |
|
Constipation, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hyperactivity, Poor suck,... |
OMIM:616364 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Synophrys, Curly hair, Sparse eyebrow, Sparse hair, Self-injurious behavior, Aggre... |
OMIM:620075 |
| Galloway-Mowat Syndrome 7 |
|
Short stature, High palate, Cleft palate, Hypercholesterolemia |
OMIM:618348 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Curly hair, Growth delay, Enamel hypoplasia, Cleft palate, Sparse hair, Anteriorly... |
OMIM:619980 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Growth delay, Short stature, Sparse body hair, Alopecia |
ORPHA:177 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration, Hematochezia, Fat... |
OMIM:214950 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Flexion contracture, Sparse hair, Alopecia |
OMIM:242300 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair |
OMIM:616819 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hepatocellular carcinoma, Obesity, Abdominal colic, Neoplasm of the liver, Overweight, Hyperchole... |
ORPHA:69663 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Postnatal growth retardation, Hirsutism, Stereotypical hand wringing, Long eyelashes, Short statu... |
OMIM:212066 |
| Megalocornea-Intellectual Disability Syndrome |
|
Short stature, High palate, Hypercholesterolemia, Motor stereotypy |
ORPHA:2479 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| ERI1-related disease |
|
Inguinal hernia, Decreased body weight, High palate, Short stature, Failure to thrive, Velopharyn... |
OMIM:608739 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Camptodactyly of toe, Thick eyebrow, Sparse hair, Truncal obesity, Feeding difficu... |
ORPHA:127 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Cartilage-Hair Hypoplasia |
|
Neonatal short-limb short stature, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Spar... |
OMIM:250250 |
| Trichohepatoenteric Syndrome 1 |
|
Trichorrhexis nodosa, Intractable diarrhea, Villous atrophy, Abnormality of iron homeostasis, Bri... |
OMIM:222470 |
| Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Curly hair, Short stature, Sparse hair |
OMIM:615280 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Abdominal symptom, Hypocalcemia, Polyphagia, Short stature, En... |
ORPHA:79443 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Joubert Syndrome 37 |
|
Short stature, Obesity, High palate, Sparse hair |
OMIM:619185 |
| X-Linked Acrogigantism |
|
Delayed puberty, Abdominal distention, Polyphagia, Increased body mass index |
ORPHA:300373 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Failure to thrive, Eosinophilic infiltration of the esophagus, Hypernatremia, Malab... |
OMIM:615508 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Nausea, Addictive alcohol use, Hypercholesterolemia |
ORPHA:90065 |
| Lelis Syndrome |
|
Nail dystrophy, Yellow nails, Furrowed tongue, Sparse lateral eyebrow, Abnormal toenail morpholog... |
ORPHA:140936 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Long-Olsen-Distelmaier Syndrome |
|
Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Vent... |
OMIM:620609 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... |
OMIM:614941 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Hypophosphatemia, Hyperaldosteronism, Umbilical hernia, Fine hair, Narrow palate... |
ORPHA:534 |
| Glass Syndrome |
|
Nail dysplasia, Inguinal hernia, Hyperactivity, Poor suck, High palate, Frequent temper tantrums,... |
OMIM:612313 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Delayed puberty, Xanthelasma, Hypertriglyceridemia, Hepatocellular adenoma, Hyperuricemia, Diarrh... |
ORPHA:79259 |
| Hypotrichosis 14 |
|
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair |
OMIM:618275 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Bilateral cleft palate, Abnormal d... |
ORPHA:3253 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Rhizomelia, Patchy alopecia, Sparse eyelashes, Failure to thrive, S... |
OMIM:302960 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Sparse hair, Fine hair |
OMIM:617988 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Leukonychia, High palate, Sparse eyelashes, Short stature, Sparse eyebrow, Fragile nails, Camptod... |
ORPHA:77258 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:324410 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... |
OMIM:618280 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Multiple joint contractures, Sparse hair, Alopecia |
ORPHA:100976 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Macs Syndrome |
|
Recurrent aphthous stomatitis, Decreased body weight, High palate, Short stature, Sparse eyebrow,... |
OMIM:613075 |
| Neuraminidase Deficiency |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Nail dystrophy, Flexion contracture, Sparse hair, Subungual hyperkeratosis, Alope... |
OMIM:614594 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Hypercholesterolemia |
OMIM:620454 |
| Rodrigues Blindness |
|
Short stature, Fine hair, Sparse hair |
OMIM:268320 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, High palate, Feeding difficulties, Sparse hair |
OMIM:614105 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Gastroesophageal reflux, Camptodactyly of finger, High palate, Polyphagia, Camptodactyly, Synophr... |
OMIM:607872 |
| Nicolaides-Baraitser Syndrome |
|
Low posterior hairline, Sparse hair, Umbilical hernia, Intrauterine growth retardation, Mild shor... |
OMIM:601358 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Abnormal toenail morphology, Severe short stature, Sparse hair... |
ORPHA:1005 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Nail dystrophy, Small nail, Hyperactivity, Short stature, Failure to thr... |
OMIM:617052 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Nail dystrophy, Alopecia of scalp, Gastrointestinal atresia, Rectal abscess... |
ORPHA:436252 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Flexion contracture of digit, Woolly hair, Sparse hair |
OMIM:619208 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Esophageal var... |
ORPHA:974 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Hyperuricemia, Increased circulating renin level, Obesity, Hy... |
ORPHA:90041 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Anal stenosis, Multiple joint contractures, Inguinal hernia, Anal atresia, Camptod... |
OMIM:305450 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Hypocalcemia, High palate, Polyphagia, Fixated interests, Constipation... |
OMIM:620330 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Large for gestational age, Loose anagen hair, Inguinal hernia, Hyperactivity, High palate, Sparse... |
OMIM:607721 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Patchy alopecia, Sparse hair |
OMIM:617763 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nail dystrophy, Elevated circulating C-reactive protein concentration, Periungual erythema, Failu... |
OMIM:615934 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia |
ORPHA:69735 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Incontinentia Pigmenti |
|
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Scarring, Ridged nail, Breast aplasia, Onychog... |
OMIM:308300 |
| Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Bicarbonaturia, Joint contracture of the hand, Elevated circulating... |
OMIM:309000 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Sparse hair, Small nail |
OMIM:620601 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse lateral eyebrow, Fine hair, Sparse hair, Short stature |
OMIM:190351 |
| Lamellar Ichthyosis |
|
Short stature, Abnormality of the nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Short stature, Failure to thrive, Nausea, Vomiting, Hyperammonemia, ... |
OMIM:222700 |
| Cardiofaciocutaneous Syndrome |
|
Dystrophic fingernails, Abnormality of the gastrointestinal tract, Sparse or absent eyelashes, Br... |
ORPHA:1340 |
| Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Gastroesophageal reflux, Slow-growing hair, Absent eyelashes, High palate, Low ... |
OMIM:115150 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Thin nail, Gastroesophageal reflux, Short stature, Growth delay, Poor appetite, Feeding difficult... |
OMIM:617799 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Severe intrauterine growth retardation, Short stature, Growth delay, Sparse hair, Int... |
OMIM:614114 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Thick hair, Hepatic failure, Sparse eyelashes, Enamel hypoplasia, Sparse eyebrow, Sparse hair, Al... |
OMIM:607626 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... |
ORPHA:3109 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis |
OMIM:616897 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hirsutism, Sparse hair |
OMIM:618087 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Melena, Chronic monilial nail infection, Chronic diarrhea, Furrow... |
OMIM:158310 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Sparse hair |
OMIM:268020 |
| Kaufman Oculocerebrofacial Syndrome |
|
High palate, Short stature, Failure to thrive, Sparse eyebrow, Intestinal malrotation, Constipati... |
OMIM:244450 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Elbow flexion contracture, Pyloric stenosis, Flexion contracture, Sparse hair, I... |
OMIM:614438 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Atrophic scars, Decreased body weight, Short stature, Joint contracture, Cleft palate, Sparse hair |
OMIM:615349 |
| Scarf Syndrome |
|
Hepatocellular adenoma, Inguinal hernia, Hypoplastic nipples, Low posterior hairline, Enamel hypo... |
ORPHA:3134 |
| Mogs-Cdg |
|
Optic atrophy, Hepatomegaly, External genital hypoplasia, Absent brainstem auditory responses, He... |
ORPHA:79330 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Isolated Biliary Atresia |
|
Decreased liver function, Xanthelasma, Severe failure to thrive, Failure to thrive, Conjugated hy... |
ORPHA:30391 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Short uvula, High palate, Short stature, Cleft palate, Sparse hair, Aplasia/Hypop... |
OMIM:614091 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Nail dystrophy, Absent eyelashes, High palate, Sparse scalp hair, Abse... |
OMIM:268400 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Premature graying of hair, Postnatal growth retardation, Nail dystrophy, Nail dysplasia, Gastroin... |
OMIM:612199 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Sparse hair, Small nail |
OMIM:273400 |
| Ifap Syndrome 2 |
|
Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Chronic diarrhea, Failure to thrive, Exocrine pancrea... |
OMIM:300972 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Disproportionate short-limb short stature, Inguinal her... |
OMIM:616541 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
| Rothmund-Thomson Syndrome Type 1 |
|
Nail dysplasia, Calcinosis, Sparse or absent eyelashes, Diarrhea, Functional abnormality of the g... |
ORPHA:221008 |
| Osteogenesis Imperfecta, Type Xx |
|
Narrow palate, Disproportionate short-limb short stature, Highly arched eyebrow, High palate, Spa... |
OMIM:618644 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Rothmund-Thomson Syndrome |
|
Nail dysplasia, Calcinosis, Small nail, Abnormality of the nail, Diarrhea, Abnormal dental enamel... |
ORPHA:2909 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Sparse hair, Knee flexion contracture, Moderate postnatal growth retardation, Co... |
OMIM:118650 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Nail dystrophy, Anorectal anomaly, Aplastic/hypoplastic toenail, Abnor... |
ORPHA:1775 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| De Barsy Syndrome |
|
Postnatal growth retardation, Inguinal hernia, High palate, Short stature, Failure to thrive, Lip... |
ORPHA:2962 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Highly arched eyebrow, Slow-growing hair, High palate, Low posterior hair... |
OMIM:617506 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Odontoonychodermal Dysplasia |
|
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Smooth tongue, Dystrophic toenail... |
OMIM:257980 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Fine hair, Abnormal fingernail morphology, Sparse hair |
ORPHA:1806 |
| Down Syndrome |
|
Delayed puberty, Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Anal atresia, Pro... |
ORPHA:870 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Failure to thrive, Short stature, Sparse hair, Fine hair |
OMIM:257850 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Small nail, Sparse eyelashes, Short stature, Sparse eyebrow, Feeding diff... |
OMIM:250410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Postnatal growth retardation, High, narrow palate, Toenail dysplasia, Oral-pharyngeal dysphagia, ... |
OMIM:300966 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Gastroesophageal reflux, Inguinal hernia, High palate, Furrowed tongue, Constipation, Cleft palat... |
OMIM:616449 |
| Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia |
OMIM:200100 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Nail dystrophy, Anoperineal fistula, Abnormal tongue morphology, Chronic diarrhea, Shor... |
ORPHA:158668 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Absent nipple, Sparse hair, Brittle hair |
OMIM:614940 |
| Hallermann-Streiff Syndrome |
|
Narrow palate, High, narrow palate, Hyperactivity, High palate, Sparse scalp hair, Proportionate ... |
OMIM:234100 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Cleft ... |
OMIM:225060 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Steinert Myotonic Dystrophy |
|
Obsessive-compulsive trait, Oral-pharyngeal dysphagia, Intestinal pseudo-obstruction, Diarrhea, A... |
ORPHA:273 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Nail dysplasia, Breast hypoplasia, Rhizomelia, Small nail, Growth delay, Failure to thrive, Spars... |
OMIM:614813 |
| Noonan Syndrome 14 |
|
High, narrow palate, Low posterior hairline, Curly hair, Short stature, Sparse eyebrow, Sparse hair |
OMIM:619745 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Sparse body hair, Tracheoesophageal fistula |
ORPHA:3068 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Chronic diarrhea, Sparse scalp hair, Failure to thrive, Recurrent infection of the gastrointestin... |
OMIM:612132 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... |
OMIM:105210 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Dystrophic fingernails, Hyperconvex fingernails, Abnormal dental enamel morphology, Dystrophic to... |
ORPHA:1071 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Bardet-Biedl Syndrome 20 |
|
Obesity, Hypercholesterolemia |
OMIM:619471 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... |
ORPHA:1010 |
| Rothmund-Thomson Syndrome Type 2 |
|
Nail dysplasia, Calcinosis, Sparse or absent eyelashes, Diarrhea, Functional abnormality of the g... |
ORPHA:221016 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... |
OMIM:305100 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:224900 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Failure to thrive, Sparse eyebrow, Severe short stature,... |
ORPHA:444072 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair, Intrauterine growth r... |
OMIM:613451 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... |
ORPHA:465508 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
| Kid Syndrome |
|
Postnatal growth retardation, Trichilemmoma, Nail dystrophy, Scarring alopecia of scalp, Neoplasm... |
ORPHA:477 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Fat malabsorption, Hepatic failure |
ORPHA:79302 |
| Marshall Syndrome |
|
High palate, Sparse eyelashes, Short stature, Sparse eyebrow, Cleft palate, Sparse hair |
ORPHA:560 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Sparse hair, Alopecia |
ORPHA:659 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Nausea and vomiting, Wool... |
ORPHA:565 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension |
OMIM:268800 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, High palate, Short stature, Sparse hair, Small for gestational age |
OMIM:300661 |
| Gapo Syndrome |
|
Nail dysplasia, Breast hypoplasia, High, narrow palate, Hypoplastic nipples, Sparse eyelashes, Gr... |
OMIM:230740 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Decreased body weight, Glossoptosis, High palate, Synophrys,... |
OMIM:602535 |
| Scarf Syndrome |
|
Inguinal hernia, Hypoplastic nipples, Low posterior hairline, Enamel hypoplasia, Low anterior hai... |
OMIM:312830 |
| Papillon-Lefèvre Syndrome |
|
Nail dystrophy, Abnormality of the nail, Cigarette-paper scars, Sparse body hair, Abnormal finger... |
ORPHA:678 |
| Nablus Mask-Like Facial Syndrome |
|
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, High palate, Camptodactyly, Sparse ... |
OMIM:608156 |
| Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Brittle hair, Severe postnatal growth retardation, Increased serum beta-hexosami... |
OMIM:252500 |
| Hamamy Syndrome |
|
Abnormal number of hair whorls, Inguinal hernia, High palate, Low posterior hairline, Sparse eyel... |
OMIM:611174 |
| Oculodentodigital Dysplasia |
|
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal dental enamel morphology, Curl... |
ORPHA:2710 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Teebi-Shaltout Syndrome |
|
High, narrow palate, Highly arched eyebrow, Slow-growing hair, Camptodactyly, Short stature, Clef... |
OMIM:272950 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Failure to thrive, Joint contracture, Flexion contracture of finger, Sparse hair, Ke... |
OMIM:601812 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema |
OMIM:146255 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Postnatal growth retardation, Highly arched eyebrow, Poor suck, Low posterior hairline, Short sta... |
OMIM:613563 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, Joint contracture of the 5th finger, High palate, Attention deficit hype... |
OMIM:619934 |
| Cockayne Syndrome B |
|
Postnatal growth retardation, Severe failure to thrive, Abnormal hair morphology, Failure to thri... |
OMIM:133540 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Postnatal growth retardation, Hypertriglyceridemia, Nail dystrophy, Generalized lipodystrophy, Hi... |
OMIM:619127 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, High palate, Short stature, Sparse hair, Coarse hair |
ORPHA:50814 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Failure to thrive, Exocrine pancreatic insufficie... |
OMIM:118450 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy |
ORPHA:268 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of hair texture, Glossoptosis, Proportionate short stature, Spar... |
ORPHA:2108 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Cleft pala... |
OMIM:106260 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Breast hypoplasia, Camptodactyly, Eunuchoid habitus, Sparse body hair, Cleft palate |
ORPHA:432 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina |
ORPHA:2237 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Knee flexion contracture, Smooth tongue, Elbow flexion contracture, C... |
OMIM:601559 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Oral leukoplakia,... |
OMIM:127550 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... |
OMIM:602782 |
| Revesz Syndrome |
|
Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Oral leukoplakia, Intrauterine growth ... |
OMIM:268130 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Knee flexion contracture, Elbow flexion contracture, Short stature, Failure to t... |
OMIM:151050 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Craniolenticulosutural Dysplasia |
|
Gastroesophageal reflux, Brittle hair, High palate, Short stature, Bifid uvula, Cleft palate, Spa... |
OMIM:607812 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Nail dysplasia, Encopresis, Gastroesophageal reflux, Intestinal malrotation, Constipation, Volvul... |
OMIM:616682 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Rhizomelia, Disproportionate short-limb short stature, Hypocalcemia, Failu... |
ORPHA:175 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Broad nail, Short stature, Short nail, Sparse hair, Fine hair |
OMIM:614099 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Delayed puberty, Hypertriglyceridemia, Generalized lipodystrophy, Lipo... |
ORPHA:79474 |
| Scalp-Ear-Nipple Syndrome |
|
Nail dysplasia, Breast aplasia, Patchy alopecia, Short stature, Bifid uvula, Sparse pubic hair, S... |
OMIM:181270 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Abnormal circulating corticosterone level, Short stature, Failure to thrive, Spa... |
ORPHA:90796 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Contracture of the proximal interphalangeal joint of the 5th finger, I... |
OMIM:280000 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Nail dysplasia, Absence of Stensen duct, Rectovaginal fistula, Inguinal hernia, Xerostomia, Hypop... |
OMIM:129900 |
| Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Slow-growing hair, High palate, Enamel hypoplasia, Fragile n... |
OMIM:164200 |
| Neurocardiofaciodigital Syndrome |
|
High palate, Short stature, Failure to thrive, Sparse eyebrow, Sparse hair, Small for gestational... |
OMIM:619869 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Growth delay, Abnormal eyebrow morphology,... |
ORPHA:2232 |
| Cockayne Syndrome A |
|
Severe postnatal growth retardation, Short stature, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:216400 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology |
ORPHA:3320 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias |
OMIM:620306 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Rhizomelia, Thin nail, Inguinal hernia, Slow-growing hair, Hypocalcemia, Hig... |
OMIM:218330 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... |
ORPHA:96191 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Orofaciodigital Syndrome I |
|
High palate, Ankyloglossia, Short stature, Enamel hypoplasia, Bifid tongue, Cleft palate, Lobulat... |
OMIM:311200 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Thick eyebrow, Sparse hair |
OMIM:609460 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Growth delay, Omphalocele, Camptodactyly of ... |
ORPHA:920 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Hypoplastic fingernail, Inguinal hernia, Abnormal hair morphology, Hyperco... |
ORPHA:2273 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Disproportionate short stature, Gastroesophageal reflux, Severe postnatal growth reta... |
OMIM:210710 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney |
OMIM:608836 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Woodhouse-Sakati Syndrome |
|
Fine hair, Hyperlipidemia, Sparse hair, Alopecia |
OMIM:241080 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Cryptorchidism |
OMIM:618143 |
| Myhre Syndrome |
|
Camptodactyly, Short stature, Obesity, Cleft palate, Thick eyebrow, Sparse hair, Intrauterine gro... |
OMIM:139210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly |
OMIM:614921 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
| Agel Amyloidosis |
|
Xerostomia, Nail dystrophy, Sparse hair, Tongue atrophy |
ORPHA:85448 |
| Alström Syndrome |
|
Hypertriglyceridemia, Frontal balding, Gastroesophageal reflux, Hirsutism, Delayed menarche, Hype... |
ORPHA:64 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Episodic vomiting, Tube feeding, Highly arched eyebrow, Sparse scalp hair, Ankyloglossia, Synophr... |
OMIM:619841 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Wrinkly Skin Syndrome |
|
Postnatal growth retardation, Inguinal hernia, High palate, Short stature, Failure to thrive, Umb... |
ORPHA:2834 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Absence of subcutaneous fat, Exocrine pancreatic insufficien... |
OMIM:620005 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Rectal prolapse, Gastroesophageal reflux, High palate, Frontal hirsutism, Failure to thrive, Shor... |
OMIM:617157 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Overgrowth o... |
OMIM:130650 |
| Costello Syndrome |
|
Thin nail, Poor suck, High palate, Curly hair, Short stature, Failure to thrive, Deep-set nails, ... |
OMIM:218040 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Hepatomegaly, Cardiomegaly, Polycystic ovaries, Ventricular septal defect |
ORPHA:137675 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Abdominal distention, Gastroesophageal reflux, Inguinal hernia, Hyperbilirubinemia, Esophageal va... |
OMIM:619534 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Congenital generalized lipodystrophy, Camptodactyly of finger,... |
ORPHA:3455 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Abnormal dental enamel morphology, High palate, Cleft palate, Lobulated tongue, Exo... |
ORPHA:2750 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Monosomy 22 |
|
Contractures of the large joints, High palate, Sparse hair, Synophrys |
ORPHA:96123 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... |
ORPHA:581 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Nail dystrophy, Gastroesophageal reflux, Small nail, Hypoplastic nipples, Absent nipple, Ankylogl... |
OMIM:620186 |
| Tooth Agenesis, Selective, 4 |
|
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,... |
OMIM:150400 |
| Focal Dermal Hypoplasia |
|
Nail dysplasia, Congenital diaphragmatic hernia, Nail dystrophy, Ridged nail, Brittle hair, Ingui... |
OMIM:305600 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Inguinal hernia, Hyperbilirubinemia, High palate, Sparse eyelashes, Short stature, Sp... |
OMIM:613610 |
| Roberts Syndrome |
|
Postnatal growth retardation, High palate, Severe intrauterine growth retardation, Wrist flexion ... |
ORPHA:3103 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Gastrointestinal hemorrhage, Protein-losing enteropathy, Increased serum bile acid co... |
ORPHA:731 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... |
OMIM:300967 |
| Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Aplasia of the eccrine sweat glands, Sparse hair |
OMIM:300291 |
| Primrose Syndrome |
|
Delayed puberty, Dystrophic fingernails, Knee flexion contracture, High palate, Sparse scalp hair... |
OMIM:259050 |
| Renpenning Syndrome 1 |
|
Brittle hair, Poor suck, High palate, Anal atresia, Camptodactyly, Sparse lateral eyebrow, Short ... |
OMIM:309500 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... |
ORPHA:284339 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... |
OMIM:300855 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, High palate, Short stature, Failure to thrive, Short nail, Fragile nails, Sparse... |
OMIM:278250 |
| Ablepharon-Macrostomia Syndrome |
|
Hypoplastic fingernail, Ventral hernia, Absent eyelashes, Hypoplastic nipples, Camptodactyly, Abs... |
OMIM:200110 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Restrictive Dermopathy |
|
Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Camptoda... |
ORPHA:1662 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale, Cryptorchidism |
OMIM:620371 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... |
ORPHA:90794 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Bifid uvula, Sparse hair, Umbilical hern... |
OMIM:601803 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Alopecia of scalp, Gastroesophageal reflux, Inguinal hernia, Chronic gastritis, Sparse scalp hair... |
OMIM:150230 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Congenital hydrocele, Hepatosplenomegaly, Splenomegaly, Epididymitis, Cardiomegaly |
OMIM:620376 |
| Branchiooculofacial Syndrome |
|
Premature graying of hair, Postnatal growth retardation, Hypoplastic fingernail, Gastroesophageal... |
OMIM:113620 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Bifid uvula, Severe short stature, Cleft palate, Thin eyebrow, Sparse hair, In... |
ORPHA:2636 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Abnormal heart m... |
ORPHA:322 |
| Chime Syndrome |
|
Fine hair, Cleft palate, Sparse hair |
ORPHA:3474 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Cryptorchidism, Tetralogy of Fallot, Cardiomeg... |
ORPHA:3472 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia |
OMIM:270400 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Menke-Hennekam Syndrome 1 |
|
Gastroesophageal reflux, Inguinal hernia, High palate, Long eyelashes, Umbilical hernia, Cleft pa... |
OMIM:618332 |
| Okamoto Syndrome |
|
Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ... |
ORPHA:2729 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Aplasia of the uterus, Tetralogy of Fallot, Hepatosplenomegaly, At... |
OMIM:274000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:365 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Sparse hair, Breast aplasia |
ORPHA:2036 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Micropenis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Cardiomegaly, Hypoplasia of penis, Hypertrophic cardiomyopathy, ... |
ORPHA:904 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... |
ORPHA:116 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Dilatation of the ventr... |
OMIM:619991 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Epididymitis, Hepatomegaly, Splenomegaly |
OMIM:256040 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal vagina morphology, Bifid uterus, Ventricular septal defect, Complete atriov... |
OMIM:236680 |
| Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Stillbirth, Ankle flexion contracture, Elbow flexion contracture, S... |
OMIM:268300 |
| Leprosy |
|
Sparse body hair, Absent eyebrow, Loss of eyelashes, Alopecia |
ORPHA:548 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Cryptorchidism, Bifid ut... |
OMIM:107480 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy of Fallot, At... |
OMIM:135900 |
| Neu-Laxova Syndrome 1 |
|
Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru... |
OMIM:256520 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocele, Uteri... |
OMIM:130050 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Atrial septal defect, Ven... |
OMIM:194190 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification |
ORPHA:51608 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Mitral valve pro... |
ORPHA:286 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
| Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
