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Gene: Scube3 MGI:3045253

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

signal peptide, CUB domain, EGF-like 3

Synonyms:

D030038I21Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Scube3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Scube3 (1 diseases)
Human diseases predicted to be associated with Scube3 (2032 diseases)

The table below shows human diseases associated to Scube3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2		11 pairs of ribs, Hypospadias, Joint hypermobility, Oral-pharyngeal dysphagia, Joint stiffness, S...	OMIM:619184

The table below shows human diseases predicted to be associated to Scube3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Scoliosis, Isolated, Susceptibility To, 1	Scoliosis	OMIM:181800
Hypophosphatasia, Infantile	Apnea, Anorexia, Bowing of the legs, Micromelia, Nephrocalcinosis, Intracranial hemorrhage, Unoss...	OMIM:241500
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, ...	OMIM:241530
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Elevated circulating creatine kinase concentration, Short neck, Knee flexion contract...	OMIM:616809
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Tubulointerstitial nephritis, ...	OMIM:203800
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Osteopenia, Hypercal...	OMIM:156400
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ...	ORPHA:1988
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Familial Expansile Osteolysis	Bowing of the long bones, Conductive hearing impairment, Osteolysis, Elevated circulating alkalin...	OMIM:174810
Fanconi-Bickel Syndrome	Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Elevated circulating aspartate a...	ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb...	OMIM:611209
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnormal thorax morpholo...	ORPHA:93160
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ...	ORPHA:289157
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Hyperlordosis, Sensorineural hearing impairment, Nephrocalc...	ORPHA:557003
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral condyles, Femoral bowing, Tibial b...	OMIM:307800
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Aganglionic megacolon, Ky...	ORPHA:261222
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Congestive hear...	ORPHA:52430
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Hearing impairment, ...	ORPHA:2801
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost...	OMIM:614732
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short neck, Beaded ribs, Cardiomegaly, Micrognathia, Flexion contracture, Multiple pr...	OMIM:616897
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Decreased LDL cholestero...	ORPHA:79320
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Elevated alkaline phosphatase of bone origin, Osteom...	ORPHA:73
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Osteomalacia, Bow...	ORPHA:157215
Hypophosphatasia, Childhood	Waddling gait, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Bow...	OMIM:241510
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Rickets, Renal tubular dysfunction, Hypoka...	ORPHA:213
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaphyseal widening...	OMIM:252500
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Ataxia, P...	OMIM:139210
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Micrognathia, Renal cyst, Nephrocalcinosis, Atrial septal defect, Obesity, Congenital...	ORPHA:369837
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypocalcemia, Short tibia, Lethargy, Micropenis, Patent foramen ovale, Hypo...	OMIM:607143
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Ventricular septal defect, Conj...	OMIM:613404
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren...	ORPHA:436
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc...	OMIM:619073
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Vertigo, Osteoarthritis, Osteoporosis, Obesity, Depression, Hypertension, Hype...	ORPHA:77296
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300554
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Abnormality of the kidney, Talipes, Reduced bo...	ORPHA:2611
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma...	ORPHA:261197
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Ventricular septal defect, Short neck, Micrognathia, Postaxial hand polydactyly,...	OMIM:235255
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Non-Functioning Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Co...	ORPHA:94080
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foo...	ORPHA:352540
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Sensorineural hearing impairment, Cardiomyopathy, Hypertension, Hype...	ORPHA:3222
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Micrognathia, Unilateral radial aplasia, Aplasia of the 1st metacarpal, Gai...	ORPHA:476126
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypercalciur...	OMIM:618440
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholester...	ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Apnea, Single transverse palmar crease, Micrognathia, Aggressive b...	OMIM:608093
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Kn...	OMIM:608836
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Abnormal ...	ORPHA:79327
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular...	OMIM:143095
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Abnormal repeti...	OMIM:620073
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Ketonuria, Hypouricemia, Osteomal...	OMIM:227810
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron...	OMIM:613845
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Arachnodactyly, Minimal chan...	OMIM:616730
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Ventricular septal defect, Short neck, Micrognathia, Postaxial hand polydactyly,...	ORPHA:1655
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b...	OMIM:618347
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic vertebral bodies, Short palm, Short ...	OMIM:101800
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Irregular vertebral endplates, Bilateral coxa valga, Short phalan...	ORPHA:439822
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Atrial septal defect, C...	OMIM:235510
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Dyspnea, Tachypnea, ...	OMIM:239200
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Decreased DLCO, Amino...	OMIM:618913
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia, Patent foramen...	OMIM:610883
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Frank-Ter Haar Syndrome	Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis,...	ORPHA:137834
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney, Abnormal sacrum morphology, Bone cyst, Abnormal thorax ...	ORPHA:2591
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Bicuspid aortic valve, Increased circulating farnesol ...	OMIM:618156
19P13.12 Microdeletion Syndrome	Short neck, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Atrial sep...	ORPHA:254346
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Hyperc...	ORPHA:199299
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria,...	ORPHA:534
Thanatophoric Dysplasia Type 1	Brachydactyly, Short femur, Bowing of the long bones, Abnormality of the kidney, Micromelia, Join...	ORPHA:1860
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Nonketotic hypoglycemia, Ketonuria, Ataxia, Apnea, Anorexia, Cardi...	ORPHA:20
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, H...	ORPHA:289176
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, Hy...	OMIM:617303
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Tachycardia, Proteinuria, Large for gestational age, Abnormal circ...	ORPHA:263455
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Salt craving, Decreased circulating cortisol level, Hypercalce...	ORPHA:95409
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Ataxia, Sensorineural hearing impairment, Gout, Hyperuricosuri...	ORPHA:411543
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or...	ORPHA:348
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/a...	ORPHA:52
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Atrioventricular block, Abnormal...	ORPHA:581
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec...	OMIM:219800
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the vertebral column, Hypercalcemia, Coxa valga	OMIM:191420
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral...	ORPHA:175
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Waddli...	ORPHA:94068
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Perimembranous ventricular septal defe...	OMIM:608104
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Elevated hepatic transaminase, Pericarditis, Proteinuria, Ataxia, Pericardial effusio...	OMIM:212065
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia, Mesangial h...	OMIM:617575
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, H...	OMIM:616026
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebral s...	ORPHA:2990
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint...	ORPHA:2774
Raine Syndrome	Micromelia, Short neck, Micrognathia, Protruding ear, Long hallux, Increased bone mineral density...	OMIM:259775
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur...	ORPHA:411536
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific...	OMIM:210710
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange...	ORPHA:3237
Beta-Ketothiolase Deficiency	Ketonuria, Ataxia, Hypoglycemia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Hypertension, ...	ORPHA:134
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Sensorineural hearing impairment...	ORPHA:2668
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Mccune-Albright Syndrome	Hyperphosphaturia, Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dyspl...	ORPHA:562
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the up...	ORPHA:371428
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat...	OMIM:615198
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Restrictive ventilatory defe...	OMIM:619013
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Salt craving, Orthostatic hypotension, Hyperc...	ORPHA:85138
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Hyperlipidemia, Osteoporosis, Nephrolit...	OMIM:232200
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Inguinal herni...	OMIM:614857
Al Amyloidosis	Increased circulating NT-proBNP concentration, Nonproductive cough, Hypoalbuminemia, Abnormal EKG...	ORPHA:85443
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Left ventricular diastolic dysfu...	ORPHA:171445
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinatum, Cortical thickening...	ORPHA:309282
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Flexion contracture, Choreoathetosis, Patent foramen ovale, Hypospad...	ORPHA:17
Smith-Magenis Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Conductive h...	ORPHA:819
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Single transv...	OMIM:619743
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th...	ORPHA:949
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, EEG a...	OMIM:246450
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypoca...	ORPHA:79443
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Elevated circulating alkaline phosp...	ORPHA:89937
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e...	OMIM:146000
Monosomy 13Q34	Pes planus, Posteriorly rotated ears, Epistaxis, Hypercalcemia, Micrognathia, Fetal pyelectasis, ...	ORPHA:96168
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Micropenis, Self-mutilation, Portal hypertension, Pericardial effusion, Osteopor...	OMIM:619487
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou...	OMIM:232800
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Broad hallux, Fifth finger distal phalanx clino...	OMIM:615923
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Respiratory insufficiency, Weight loss, Hematuria, Irritability, H...	ORPHA:69077
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Sensorineural hearing impairme...	ORPHA:2315
Wolcott-Rallison Syndrome	Hyponatremia, Atrial septal defect, Renal insufficiency, Metaphyseal dysplasia, Acute hepatic fai...	ORPHA:1667
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Hem...	OMIM:213980
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Conductive hearing impairment,...	ORPHA:1513
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi...	OMIM:268310
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Ob...	OMIM:618395
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia, Congenital sensorineural hearing impairment, Elevated circulatin...	OMIM:617872
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hypomagnesemia, Oste...	ORPHA:398063
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Abnormal femur morphology, Atrioventr...	ORPHA:324
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Conductive hearing i...	OMIM:201000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Liver Disease, Severe Congenital	Cardiomegaly, Micrognathia, Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Coug...	OMIM:619991
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Cerebral h...	ORPHA:276621
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,...	ORPHA:66627
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Hypertriglyceridemia...	ORPHA:79083
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicoureteral reflux,...	OMIM:118450
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Ataxia, Sensorineural hearing impair...	OMIM:300661
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl...	OMIM:122860
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Small for gestational age,...	ORPHA:275555
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General...	OMIM:613388
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau...	OMIM:619868
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, H...	ORPHA:56304
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholestero...	OMIM:306000
Osteogenesis Imperfecta, Type X	Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Dextrocardia, Mesoaxial hand polydactyl...	OMIM:615994
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, H...	OMIM:612780
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Small for gestational age, Elevated circulating aspar...	OMIM:617093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Abnormali...	ORPHA:2549
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial ...	ORPHA:798
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Ramon Syndrome	Diabetes mellitus, Telangiectasia of the skin, Abnormal dental enamel morphology, Sensorineural h...	ORPHA:3019
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati...	OMIM:616733
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Ve...	OMIM:194050
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Renal phosphate wasting, Elevated circulati...	OMIM:193100
Kbg Syndrome	Vertebral fusion, Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Short ne...	OMIM:148050
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Gout	ORPHA:510
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia	OMIM:610539
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Short neck, Kyphosis, Hyperlordosis, Scoliosis	OMIM:300718
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair...	OMIM:157800
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Absent brainstem auditory responses, Renal insufficiency, Proteinu...	ORPHA:90321
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul...	ORPHA:358
East Syndrome	Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Sensorineur...	ORPHA:199343
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Sensorineural hearing impairment, Osteolysis, Honeycomb palmoplantar hy...	ORPHA:494
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Hypoalbuminemia, Thoraci...	ORPHA:505248
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Gly...	ORPHA:2089
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Recurrent...	ORPHA:251004
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Vertigo, Ventricu...	OMIM:263800
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ...	OMIM:134780
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A...	ORPHA:1507
Pseudohypoparathyroidism Type 1C	Short neck, Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thum...	ORPHA:79444
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Abnormal clavicle morphology, Elevated circulating C-reactive protein ...	ORPHA:57196
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatem...	OMIM:103580
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi...	ORPHA:85184
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal wide...	OMIM:614376
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda...	OMIM:173800
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Scapular winging, Peroneal muscle weakness, Elevated circulating creatine kinase concentration, F...	OMIM:181350
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Hyperlipidemia, Osteoporosis, Nephrolit...	OMIM:232220
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Congenital contracture, Ataxia, Renal hypoplasia, ...	ORPHA:191
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Dysp...	ORPHA:90041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Tubulointerstitial fibrosis, Osteoporosis, I...	ORPHA:79259
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
H Syndrome	Hallux valgus, Pes planus, Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Re...	ORPHA:168569
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn...	ORPHA:84090
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Ataxia, Steppage gait, Hypoalbuminemia, Hypercholester...	OMIM:607250
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Res...	OMIM:618329
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Failure ...	OMIM:560000
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Gl...	OMIM:615605
Pallister-Hall Syndrome	Decreased circulating cortisol level, Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Dist...	OMIM:146510
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Cond...	OMIM:156550
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increased circulating ...	OMIM:603553
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatemia, Hypocal...	OMIM:612462
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Low-...	OMIM:228600
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Cachexia, Short neck, Renal hypoplasia/aplasia, Micrognathia, ...	ORPHA:1438
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Abnormality of the ear, Tibial metaphyseal irreg...	ORPHA:457395
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Unilateral ren...	OMIM:618188
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Pelviscapular Dysplasia	Brachydactyly, Congenital hip dislocation, Abnormal pinna morphology, Short femur, Hypoplastic sc...	ORPHA:93333
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p...	ORPHA:1488
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Hernia, Decreased...	ORPHA:955
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ...	ORPHA:94124
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal e...	OMIM:277900
Lesch-Nyhan Syndrome	Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Cho...	OMIM:300322
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Cerebral h...	ORPHA:29072
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae,...	OMIM:614701
Pearson Syndrome	Renal cyst, Hypocalcemia, Ataxia, Cardiomyopathy, Hypokalemia, Hypomagnesemia, Glycosuria, Elevat...	ORPHA:699
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Micrognathia, Pectus excavatum, Hiatus ...	OMIM:617729
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Conductive hearing impairment, Preaxial hand polydactyly, Overfolded...	ORPHA:79113
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Ventricular septal defect, Respiratory insufficiency...	OMIM:617021
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Micrognathia, Kyphosis, Po...	ORPHA:3082
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Ataxia, Dysuria, Abnormal pericardium morpho...	ORPHA:35687
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali...	ORPHA:96148
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea...	OMIM:615895
Hypotonia-Cystinuria Syndrome	Posteriorly rotated ears, Facial palsy, Macrotia, Polyphagia, Nephrolithiasis, Cystinuria, Hypoca...	OMIM:606407
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis, Hearing impairment	OMIM:606263
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Camptocormia, ...	OMIM:617595
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, T...	ORPHA:36234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ...	OMIM:270400
Aapoaiv Amyloidosis	Back pain, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elevated c...	ORPHA:439232
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Central Diabetes Insipidus	Hyponatremia, Anorexia, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Nocturia	ORPHA:178029
Immunodeficiency 27A	Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Anorexia, Weight loss, S...	OMIM:209950
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failu...	ORPHA:163693
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Conductive hearing impairment, Sensorineural he...	ORPHA:921
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl...	ORPHA:264450
Seckel Syndrome 10	Ventricular hypertrophy, Microretrognathia, Hypertriglyceridemia, Diabetes mellitus, Elevated hem...	OMIM:617253
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post...	OMIM:615986
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Ataxia,...	OMIM:251300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Osteoporosis, Osteolysis, Weight loss, Nephropathy	ORPHA:100024
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to mu...	OMIM:220110
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Sotos Syndrome	Ureteral duplication, Neonatal hypoglycemia, Flexion contracture, Pedal edema, Atrial septal defe...	ORPHA:821
Oligomeganephronia	Congenital diaphragmatic hernia, Micrognathia, Secundum atrial septal defect, Glomerulomegaly, Bi...	ORPHA:2260
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Bronchiectasis, Decreased circulating beta-2-microglobulin...	OMIM:241600
Isolated Osteopoikilosis	Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, Syndactyly,...	ORPHA:166119
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Apnea, Abnormal pulmonary valve morphology, Craniosynostosis, Optic ner...	ORPHA:667
Sotos Syndrome	Increased body weight, Glucose intolerance, Otitis media, Conductive hearing impairment, Atrial s...	OMIM:117550
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou...	OMIM:610965
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Cough, Abn...	ORPHA:464329
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Hearing impairment, Hyperlipidemia, Insulin resistance, Flex...	ORPHA:90153
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Proximal muscle weakness in upper...	ORPHA:99845
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Tachypnea, Narrow chest, D...	OMIM:613320
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Posteriorly rotated ears, Sandal gap, Paroxysmal supraventricular t...	OMIM:617877
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to muscle weakness, Optic a...	ORPHA:436271
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Neonatal respiratory distress, Proteinuria, Small for gestationa...	ORPHA:97362
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Impaired glucose tolerance, Insul...	ORPHA:769
Robinow Syndrome	Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte...	ORPHA:97360
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de...	OMIM:619534
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones,...	ORPHA:51608
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Conductive hearing impairment, Clinodactyly of the 5th finger, A...	ORPHA:1606
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnormal form of the vertebra...	ORPHA:2710
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Prominent antitragus, Ataxia, Low alkaline phosphatase, Brachydactyly	OMIM:618879
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Increased bone...	ORPHA:355
Ollier Disease	Micromelia, Joint stiffness, Osteolysis, Platyspondyly, Abnormal metaphysis morphology	ORPHA:296
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia...	OMIM:620085
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr...	ORPHA:508488
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Dext...	OMIM:613686
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Short foot, Microtia, Joint contracture of the 5th finger, Scoliosis, Clinodactyly ...	OMIM:248910
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Hypospadias, Abnormality of the kidney, Abnormality of alkaline ...	OMIM:137920
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Gastrointestinal hemor...	OMIM:229600
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal lactate dehydrogenase level, Osteolysis, Weight ...	ORPHA:668
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar creases	ORPHA:1116
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Hearing impair...	ORPHA:100924
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Conductive hearing impairment, Central Y-shaped metacarpal, Low-set ...	OMIM:277170
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph...	ORPHA:208441
Albers-Schönberg Osteopetrosis	Osteomyelitis, Facial palsy, Hearing impairment, Recurrent fractures, Mandibular osteomyelitis, G...	ORPHA:53
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,...	OMIM:608612
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Aggressive behavior, Sensorineural hearing impairment,...	ORPHA:488627
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Wide anterior f...	OMIM:231680
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Hematuria, Intracranial hemorrhage, Hyper...	ORPHA:35909
Hereditary Fructose Intolerance	Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice,...	ORPHA:469
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercal...	ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Elevated circulating creatine kinase concent...	ORPHA:454836
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of thumb, Abnormal for...	ORPHA:628
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp...	ORPHA:90154
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorpt...	ORPHA:94089
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Elevated circulating creatine kinase concentration, Claw hand deformity, Sensorineur...	OMIM:614455
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Hyperparathyroidism 4	Osteopenia, Nephrolithiasis, Hypercalcemia	OMIM:617343
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, Cough, Abnormality of the...	ORPHA:464321
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Pectus excavatum, Conductive hearing impa...	OMIM:617808
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight loss, Increased circulating cortisol l...	ORPHA:97289
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Clubbing, Clubbing of fingers, Hypoalbuminemia, Budd-Chiari syndrome, Hypopro...	OMIM:226300
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Anorexia, Pericardial effusion, Kyphosis...	ORPHA:77259
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Cardiomega...	OMIM:618143
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrh...	ORPHA:340
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Micro...	OMIM:114290
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Tachypnea, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hyp...	ORPHA:79345
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,...	ORPHA:26791
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Peroxisome Biogenesis Disorder 3B	Ataxia, Single transverse palmar crease, Sensorineural hearing impairment, Elevated circulating p...	OMIM:266510
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Tachycardia, Hypoproteinemia	OMIM:221400
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tubulointerstitial nephri...	OMIM:218330
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Conductive ...	OMIM:194190
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost...	OMIM:614008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Compulsive behaviors, Hyperglycemia, Hyponatremia, Hypoventilation, Central hypoventilation, Obes...	ORPHA:293987
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Inguinal hernia, Bicuspid aortic valve, Ventricular septal ...	OMIM:130720
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lowe...	OMIM:250250
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t...	OMIM:606721
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Conductive hearing impair...	ORPHA:2980
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas...	OMIM:615244
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp...	ORPHA:2484
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Atrial septal defect, Conductive hearing impairment, Thick...	OMIM:607872
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphol...	ORPHA:64755
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Inguinal hernia, Tapered toe, Large for gestational age, Aggressive behavior, Tape...	ORPHA:544488
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ...	OMIM:253010
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ...	OMIM:271510
Multiple Pterygium-Malignant Hyperthermia Syndrome	Conductive hearing impairment, Finger syndactyly, Arachnodactyly, Tapered finger, Abnormal rib mo...	ORPHA:2215
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hypospadias, Small for gestational age, Ventricular septal defect, Avascula...	OMIM:222470
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad...	ORPHA:29073
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Brachia...	ORPHA:268
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, Elevate...	OMIM:614866
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Hematochezia, H...	OMIM:618183
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice...	ORPHA:3467
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Micrognathia, Equinus calcaneus, Knee disl...	ORPHA:536532
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Self-mutilation, Hyperuricemia	OMIM:308950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Elevated alkaline phosphatase of bone origin, ...	OMIM:167320
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Epistaxis, Pericardial...	ORPHA:167
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild...	ORPHA:94088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib...	OMIM:612286
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Scapular winging, Elevated circulating creatine kinase concentration, Achilles ten...	OMIM:300695
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Compulsive behaviors, Short palm, Conductive hearing...	ORPHA:1001
Pontine Tegmental Cap Dysplasia	Ataxia, Facial palsy, Head titubation, Sensorineural hearing impairment, Rib fusion, Hemivertebra...	OMIM:614688
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Short neck, Conductive hearing impairment, Atrial septal defect, Mic...	OMIM:601808
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Op...	OMIM:618476
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin...	ORPHA:79474
Mucopolysaccharidosis Type 4	Short neck, Reduced bone mineral density, Pectus carinatum, Hernia, Abnormal dental enamel morpho...	ORPHA:582
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Reduced bone mineral de...	ORPHA:2370
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Joint hypermobility, Neonatal hypoglycemia, Increas...	OMIM:223360
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting re...	ORPHA:47159
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Ventricular septal defect, Foot oligodactyly, Low-set ears, Scoliosis, ...	OMIM:601357
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, Inability to walk, Overlapping toe, EEG with generalized epileptif...	OMIM:617976
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili...	ORPHA:239
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se...	ORPHA:2790
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Right axis deviation, Elevated jugular venous pressure, Elevated circulating ...	OMIM:255160
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, R...	ORPHA:93267
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Spina b...	OMIM:218600
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O...	ORPHA:1657
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Elevated circulating C-reactive protein concentration, Pedal edema, Large vessel vascul...	ORPHA:49041
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Unsteady gait, Genu valgum, Irritability, EEG abnormality...	OMIM:617798
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal ...	OMIM:244450
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Hypoglycemia, ...	ORPHA:369
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusio...	ORPHA:90362
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Hypotensio...	ORPHA:99828
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Elevated circulating creatine kinase concentration, Pectus excavatum, Bulimia,...	ORPHA:314389
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Dyspnea, Congestive heart failure, Flexion contr...	ORPHA:220393
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Coccidioidomycosis	Respiratory distress, Abnormal long bone morphology, Cough, Broad ribs, Abnormality of the kidney...	ORPHA:228123
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Short neck, Micrognathia, Generalized joint laxity, Polyphagia, Tibial bowing, Clinod...	ORPHA:251028
Propionic Acidemia	Increased level of hippuric acid in urine, Apnea, Hypoglycemia, Cerebellar hemorrhage, Tachypnea,...	OMIM:606054
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finge...	ORPHA:2876
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin concentration...	ORPHA:540
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Vertigo, Elevated urinary dopamine ...	ORPHA:230
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Abnormal lactate dehydrogenase ...	ORPHA:54057
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosp...	OMIM:241410
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Tricuspid regurgitation, Cardiomegaly, Short tibia, Pneumothor...	OMIM:620306
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, ...	OMIM:620366
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Dilated cardiomyopathy...	OMIM:618805
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy...	ORPHA:2323
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Craniosynos...	OMIM:617140
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Proximal upper l...	ORPHA:254361
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Small for...	OMIM:616229
Felty Syndrome	Recurrent urinary tract infections, Sinusitis, Pericarditis, Recurrent pneumonia, Limitation of j...	ORPHA:47612
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:601678
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ...	OMIM:271630
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal...	ORPHA:320
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Posteriorly rotated ears, ...	ORPHA:2789
Burkitt Lymphoma	Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Hyperuric...	ORPHA:543
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Congenital malformation of the left heart, Wide penis, Abnormality of the ear, Hypopl...	ORPHA:3455
Kbg Syndrome	Vertebral fusion, Single transverse palmar crease, Short neck, Congenital malformation of the lef...	ORPHA:2332
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ...	ORPHA:466677
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Flexion contracture, Femoral bowing, Narrow chest, Conducti...	ORPHA:95699
Lymphangiectasia, Intestinal	Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Avascular necrosis of the capital femoral ep...	ORPHA:247691
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Absent thumb...	OMIM:609053
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous finger...	OMIM:615546
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin...	ORPHA:2298
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Genu valgum, Elevated circulating alkaline phosphatase concentrati...	OMIM:613312
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy...	ORPHA:36913
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Abnormal heart morphology, Small thenar eminenc...	OMIM:239800
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic...	OMIM:602579
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys...	OMIM:613658
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Dys...	OMIM:619473
Shprintzen-Goldberg Syndrome	Osteopenia, Apnea, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Pectus ca...	ORPHA:2462
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Microret...	ORPHA:1307
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Shortened QT interval, Osteo...	ORPHA:143
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis, Short distal phalanx of finger	ORPHA:2776
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	OMIM:603233
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Hyp...	ORPHA:99826
Schwartz-Jampel Syndrome	Apnea, Elevated circulating creatine kinase concentration, Micromelia, Short neck, Micrognathia, ...	ORPHA:800
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Tal...	OMIM:601382
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, A...	OMIM:615883
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Radio-Tartaglia Syndrome	Pes planus, Brachydactyly, Ataxia, Ventricular septal defect, Impulsivity, Aggressive behavior, M...	OMIM:619312
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-g...	ORPHA:86816
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Ataxia, Abnormality o...	ORPHA:1764
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Small for gestational age, Abnormal pinna ...	ORPHA:3078
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Hyperlipidemia, Gout, Hematuri...	OMIM:232240
Colchicine Poisoning	Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, H...	ORPHA:31824
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Elevated hepatic transaminase, Portal hypertension, Congestive heart failur...	ORPHA:367
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Short clavicles, Short ...	OMIM:248370
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel mo...	ORPHA:464
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous finger syndactyly, Narrow chest, Con...	OMIM:601390
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Hypoplastic frontal si...	OMIM:136760
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Short neck, Micrognathia, Proximal p...	OMIM:122470
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Micrognathia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus, Nephro...	OMIM:208085
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ...	OMIM:171480
Hypophosphatemic Bone Disease	Rickets, Bowing of the legs, Osteomalacia, Hypophosphatemia	OMIM:146350
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Cachexia, Anorexia, Myocardial i...	ORPHA:3452
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Shortened QT interval, Osteo...	ORPHA:99880
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Ventricular septal defect, Elevated circulating creatine kinase co...	OMIM:614576
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Narrow chest, Small...	OMIM:264090
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con...	ORPHA:1159
Huntington Disease-Like 1	Restlessness, Dysmetria, Gait ataxia, Weight loss, Depression, Bradykinesia, Abnormal shoulder mo...	ORPHA:157941
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Hypoglycemia, ...	OMIM:617053
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney ...	OMIM:602152
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Dyspnea, 2-3 toe syndactyly, Renal tubular dysfunction, Irritability, Gl...	OMIM:616539
Winchester Syndrome	Kyphosis	OMIM:277950
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, ...	ORPHA:746
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Ventricu...	OMIM:601005
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Galactosemia Iii	Sensorineural hearing impairment, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosi...	OMIM:230350
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph...	ORPHA:263508
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden episodic apnea, Elevated circulating...	ORPHA:159
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca...	OMIM:182212
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Neonatal respiratory distress, Lumbar hyperlordosis, Rhizomelia, Short hu...	OMIM:602471
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive	OMIM:239199
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulati...	OMIM:612852
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Rach...	OMIM:612089
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Hypospadias, Ataxia, Micrognathia, Conductive hearing impairment, Renal h...	ORPHA:314679
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Pulmonary valve atresia,...	ORPHA:3474
Dental Anomalies And Short Stature	Mitral valve prolapse, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vert...	OMIM:601216
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb...	OMIM:608681
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Joint ...	OMIM:132400
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Inability to walk, Dilated ...	ORPHA:206559
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Mixed hearing impairment, Short femur, Talipes, Short neck, Micrognathia, Sensorineur...	OMIM:300990
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polyuria, Megacystis, Irritability, Polydipsia, Hypernatremia	OMIM:125800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, Aminoaciduria, Loss of ambulation, Ulnar deviation...	OMIM:214100
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polyuria, Megacystis, Irritability, Polydipsia, Hypernatremia	OMIM:304800
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Talipes, Inability to walk, Choreoathetosis, Bruxism, Conductive hearing impairment, Stereotypica...	OMIM:618497
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased ci...	OMIM:613677
Giant Cell Arteritis	Anorexia, Cough, Conductive hearing impairment, Ataxia, Sudden cardiac death, Vertigo, Vasculitis...	ORPHA:397
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi...	ORPHA:552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Respiratory distress, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphe...	OMIM:617156
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac...	OMIM:222748
Osteopathia Striata With Cranial Sclerosis	Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Cond...	OMIM:300373
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Increased skull ossification, Pneumonia	ORPHA:85179
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Sandal g...	OMIM:618885
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, Irreg...	OMIM:108300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, R...	OMIM:609560
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Dyspnea, Renal cyst, Elevated circulating alkaline phosphatase concentration, Increase...	OMIM:174050
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Osteolysis, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Ketotic h...	ORPHA:361
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Conge...	ORPHA:373
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho...	OMIM:167250
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Burn-Mckeown Syndrome	Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Conductive h...	OMIM:608572
46,Xy Sex Reversal 4	Distal symphalangism, Micrognathia, Sensorineural hearing impairment, Elevated circulating creati...	OMIM:154230
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort...	OMIM:120330
Pallister-Hall Syndrome	Ectopic kidney, Large for gestational age, Hemivertebrae, Atrial septal defect, Micropenis, Atrio...	ORPHA:672
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol...	ORPHA:474
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow...	OMIM:184260
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vesicoureteral...	ORPHA:959
Ethylene Glycol Poisoning	Tachypnea, Hypocalcemia, Ataxia, Facial palsy, Episodic respiratory distress, Renal tubular dysfu...	ORPHA:31826
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Posteriorly rotated ears, Facial palsy, Hyperlordosis, Micrognath...	ORPHA:2780
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi...	OMIM:132450
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr...	OMIM:619055
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hy...	ORPHA:231580
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Dystonia 31	Abnormal posturing, Difficulty walking, Dysphagia, Depression	OMIM:619565
Combined Oxidative Phosphorylation Deficiency 47	Short palm, Elevated hepatic transaminase, Toe syndactyly, Posteriorly rotated ears, Hypoglycemia...	OMIM:618958
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Postlingual sensorineural hearing impairment, Increased susceptibi...	OMIM:304700
Mpi-Cdg	Gastrointestinal hemorrhage, Abnormal circulating enzyme concentration or activity, Portal hypert...	ORPHA:79319
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Recurrent urinary tract infections, Bilateral single transvers...	ORPHA:502
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Micrognathia, Secundum atr...	ORPHA:2257
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys...	OMIM:269300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Single tr...	ORPHA:83617
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Vertigo, Ventricular tachycardi...	ORPHA:263297
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Leishmaniasis	Elevated hepatic transaminase, Anorexia, Weight loss, Rhinitis, Hypoalbuminemia	ORPHA:507
Arima Syndrome	Proteinuria, Polyuria, Ataxia, Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic atrophy, Sta...	OMIM:243910
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Osteoporosis, Osteolysis, Weight loss...	ORPHA:98850
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Zechi-Ceide Syndrome	Sandal gap, Conductive hearing impairment, Short metatarsal, Abnormal earlobe morphology, Abnorma...	ORPHA:217017
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, Conductive hearing impa...	OMIM:102500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c...	OMIM:239100
Ravine Syndrome	Ataxia, Apnea, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to t...	ORPHA:99852
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Abnormality of alkaline phosphatase level, Head-banging, Short distal phalanx of to...	OMIM:619356
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia	OMIM:616910
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen...	OMIM:214300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Elevated hepatic transaminase, Osteomyelitis, Failure to thrive in infancy,...	ORPHA:37042
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Trichohepatoneurodevelopmental Syndrome	Narrow chest, Clinodactyly of the 5th finger, Bilateral coxa valga, Simple ear, Joint laxity, EEG...	OMIM:618268
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot...	OMIM:619658
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Sho...	ORPHA:1703
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H...	OMIM:252150
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Moebius Syndrome	Respiratory distress, Short neck, Micrognathia, Lower limb undergrowth, Micropenis, Short phalanx...	OMIM:157900
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Optic disc pallor, Posteriorly rotated ears, A...	OMIM:618580
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abno...	ORPHA:2345
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Otitis m...	ORPHA:353281
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspo...	OMIM:126550
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Kn...	ORPHA:536545
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co...	ORPHA:91547
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration, Unsteady gait, Dysm...	OMIM:616479
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Tachypnea, Abnormal bloo...	ORPHA:173
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Renal Fanconi syndrome, Lethargy, Glyc...	ORPHA:447
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Hypouricemia, Ataxia, Sensorineural hearing impairment, Decreased urinary urate	ORPHA:760
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Pes planus, Elevated circulating creatine kinase concentration, Ab...	ORPHA:88618
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated circulating alpha...	OMIM:613095
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Short neck, ...	OMIM:244300
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobility of distal inte...	ORPHA:230851
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini...	ORPHA:542323
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypoalbuminemia, Hypoc...	OMIM:246700
Catel-Manzke Syndrome	Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the ...	OMIM:616145
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-ur...	OMIM:274150
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Protruding ear, Atrial septal defect, Emphysema, Lumbar hyperlordosis, Arachnodact...	ORPHA:500150
Retinitis Pigmentosa	Hypoplasia of penis, Sensorineural hearing impairment, Optic atrophy, Obesity, Hyperinsulinemia, ...	ORPHA:791
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circu...	OMIM:613179
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Hsd10 Disease, Infantile Type	Restlessness, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Cardiomegaly, ...	ORPHA:391428
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Short metatarsal, Short palm, Prominent U wave, Clinodactyly of the 5th finger, Sho...	OMIM:170390
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc...	ORPHA:79303
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Restless legs, Absent brainstem auditory responses, Urinary incontinence, Ha...	ORPHA:101085
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu...	OMIM:612526
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Elevate...	ORPHA:90060
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Optic atrophy, Respiratory insufficiency, Abnormal form of the verteb...	ORPHA:93262
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Hypotension, Failure to thrive	OMIM:264350
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Three M Syndrome 3	Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Short thorax, P...	OMIM:614205
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Recurrent fractures, Elevated circulating alkaline phosphatase con...	ORPHA:329475
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia...	ORPHA:57
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Conductive h...	ORPHA:576
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co...	OMIM:150250
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Abnormal heart morphology, Hematochezia, Melena, Midclavic...	ORPHA:79076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Dysphagia, ...	ORPHA:89842
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Hematemesis, Shortened QT interval, Cranial nerve compression, Nephrolit...	ORPHA:652
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Ata...	ORPHA:42
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Down Syndrome	Joint laxity, Sandal gap, Aganglionic megacolon, Bilateral single transverse palmar creases, Shor...	ORPHA:870
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Increased urine succinate level, Apnea, Elevated circulating aspartate a...	OMIM:619048
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Ul...	OMIM:193700
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Smith-Mccort Dysplasia 2	Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho...	OMIM:615222
Otofaciocervical Syndrome	Abnormal clavicle morphology, Scapular winging, Down-sloping shoulders, Renal hypoplasia/aplasia,...	ORPHA:2792
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Hyperactivity, Neonatal respiratory distress, Talipes, First degree atrioven...	ORPHA:589821
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary...	ORPHA:403
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Renal agenesis, Ataxia, Apn...	ORPHA:2754
Wolfram Syndrome	Central apnea, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus...	ORPHA:3463
Larsen-Like Syndrome	Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Recurrent otitis media, Radial deviation of...	OMIM:608545
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	ORPHA:158061
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl...	OMIM:617137
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Optic disc coloboma, Rib fusion, Small hand, Optic ...	ORPHA:50
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Otosclerosis, Failure to thrive in infancy, Aggressive behavior, Short nec...	ORPHA:529962
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Optic atrophy, Stage 5 ...	OMIM:268315
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Ventricular septal defect, Kyphoscoliosi...	OMIM:618348
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Hy...	ORPHA:1187
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Irritability,...	ORPHA:292
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Conductive hea...	OMIM:600373
Camurati-Engelmann Disease, Type 2	Waddling gait, Hip contracture, Osteopenia, Thoracolumbar scoliosis, Knee flexion contracture, Mi...	OMIM:606631
Progressive Familial Intrahepatic Cholestasis	Jaundice, Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increased cir...	OMIM:616050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Aganglionic megacolon, Tapered finger, Sensorineural hearing impairment...	OMIM:239300
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Asthma, Dysphagia, Weig...	ORPHA:2070
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Lumbosacral meningocele, Micrognathia, Intrahepati...	OMIM:607330
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Conductive hearing impairm...	ORPHA:580
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux, Conductive h...	ORPHA:567
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed...	OMIM:610968
Mullegama-Klein-Martinez Syndrome	Pes planus, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Sensorineural hearing im...	OMIM:301022
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Mixed hearing impairment, Brachydactyly, Kyphoscoliosis, Micrognathia, Sensorineur...	OMIM:616331
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, High axial triradius, Abnormal rep...	OMIM:123450
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct...	OMIM:601455
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Bone cyst,...	ORPHA:3042
Kenny-Caffey Syndrome, Type 1	Long clavicles, Hypomagnesemia, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long b...	OMIM:244460
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n...	ORPHA:583
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal widening of metacarpals, Co...	OMIM:602535
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Dubowitz Syndrome	Syndactyly, Sacral dimple, Hyperactivity, Hypospadias, Pes planus, Single transverse palmar creas...	OMIM:223370
Pmm2-Cdg	Respiratory distress, Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Hypoalbum...	ORPHA:79318
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Hypospadias, Cachexia, Micrognat...	ORPHA:813
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad...	ORPHA:223
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Shortening of all distal phalanges of the fingers, Large earlobe, Elevated cir...	OMIM:615716
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Short neck, Micrognathia, Aplasia/Hypoplasia of ...	ORPHA:96149
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Atrial se...	ORPHA:2044
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi...	OMIM:614736
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Pes planus, Tapered finger, Sensorineural hearing impairment, Small hand, Optic atrophy, Hip dysp...	OMIM:618672
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Hyperlipidemia, Chronic kidney di...	ORPHA:567546
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ...	ORPHA:84081
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Portal hyp...	ORPHA:171
Branchiootorenal Syndrome 1	Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral...	OMIM:113650
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Mend Syndrome	Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials,...	ORPHA:401973
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Kyphosis, Inability to walk, Ton...	ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Cholesteatoma	OMIM:614113
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Compulsive behav...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Compulsive behav...	ORPHA:353277
Saethre-Chotzen Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodactyly of the 5th finger, Condu...	ORPHA:794
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase, Abnormal cardia...	ORPHA:2394
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Clino...	ORPHA:3236
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac...	OMIM:611560
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Sacral dimple, Ventricular septal defect, Single interp...	OMIM:257920
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Ataxia, Aganglionic megacolon, Short neck, Micrognathia, Pectu...	ORPHA:247262
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Aortic regurgitation, Multicystic kidney dysplasia, Apnea, Mic...	ORPHA:1052
Coach Syndrome 2	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Apnei...	OMIM:619111
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Abnormal thumb morphology, Pectus exca...	ORPHA:3242
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Atrial Standstill	Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular block, Ventricular escape...	ORPHA:1344
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome,...	OMIM:254900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio...	OMIM:201475
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Pectus carinatum, Narrow...	OMIM:253220
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Sensorineu...	OMIM:617950
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Abnormality o...	ORPHA:99885
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Single transverse palmar crease, Microgna...	ORPHA:73272
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Short neck, Senso...	OMIM:118100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Cornea...	ORPHA:90354
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Conductive...	OMIM:280000
Trisomy 13	Narrow chest, Hernia, Atrial septal defect, Bilateral single transverse palmar creases, Abnormal ...	ORPHA:3378
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach...	OMIM:615160
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hyperactivity, Atrial fibrillation, Craniosynostosis, Neonatal asp...	ORPHA:525731
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia, Respiratory insufficiency	ORPHA:1954
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Maffucci Syndrome	Recurrent fractures, Osteolysis, Scoliosis, Dysphagia	ORPHA:163634
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Apnea, Internally rotated shoulders, Single transverse p...	OMIM:619503
Trisomy 10P	Micrognathia, Hemivertebrae, Abnormality of the ear, EEG with focal spikes, Abnormal hip joint mo...	ORPHA:171929
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Microgna...	ORPHA:1225
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Conductive hearing impairmen...	OMIM:201750
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of the upper urinary tract, Limitation of joint mobility...	ORPHA:873
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single tran...	ORPHA:488642
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr...	ORPHA:2322
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno...	OMIM:617478
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Protruding ear, Tibial bowing, Reduced bone mineral density, Pectus carina...	ORPHA:93315
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr...	ORPHA:1856
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Hypospadias, Ventricular septal defect, Optic nerve hypopl...	OMIM:206900
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Red urine, Osteolysis, Corneal scarring, Atypical scarring of skin, Elevate...	OMIM:263700
Deafness, Autosomal Dominant 23	Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Chromosome 2P16.1-P15 Deletion Syndrome	Posteriorly rotated ears, Arachnodactyly, Kyphoscoliosis, Optic nerve hypoplasia, Metatarsus addu...	OMIM:612513
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation ...	ORPHA:1394
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Myasthenia Gravis	Raynaud phenomenon, Dyspnea, Hepatitis, Dysphagia, Rheumatoid arthritis, Glycosuria, Hearing impa...	ORPHA:589
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Hypospadias, Ventricular septal de...	ORPHA:163979
Monosomy 18Q	Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Choreoathetosis, Micropenis, Arac...	ORPHA:1600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm...	ORPHA:107
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Lethargy, Mildly elevated...	ORPHA:71212
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Athetosis, Glycosuria, Interictal epileptiform activity, Ty...	OMIM:618857
Craniofacioskeletal Syndrome	Barrel-shaped chest, Pes planus, Ventricular septal defect, Hypospadias, Posteriorly rotated ears...	OMIM:300712
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Short neck, Large for gestational age, Micrognathia, Flexion con...	ORPHA:96334
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Irritability, Org...	ORPHA:79242
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Optic atrophy, Reduced bone mineral density, Increase...	ORPHA:561
7Q31 Microdeletion Syndrome	Atrial septal defect, Hyperactivity, Prominent fingertip pads, Asthma, Hypoplasia of the cochlea,...	ORPHA:251061
Cardiospondylocarpofacial Syndrome	Brachydactyly, Abnormal form of the vertebral bodies, Mitral valve prolapse, Mitral regurgitation...	ORPHA:3238
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Conductive hearing impairme...	OMIM:117650
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Galactokinase Deficiency	Abnormal circulating enzyme concentration or activity, Small for gestational age, Hypoglycemia, N...	ORPHA:79237
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Gr...	OMIM:619377
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic ...	OMIM:607765
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Synostosis ...	ORPHA:3258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cubitus valgus, Jaundi...	OMIM:214110
Chronic Bilirubin Encephalopathy	Central apnea, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbumin...	ORPHA:529808
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat...	ORPHA:563
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Aspiration pneumonia, Conductive hearing impairment, Vesicoureteral reflux, Hypergl...	ORPHA:444077
Acute Bilirubin Encephalopathy	Central apnea, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbumin...	ORPHA:529799
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hypercapnia, High-output congesti...	ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short neck, Protruding ear, Hypocalcemia, Abnormal repetitive mannerisms, Joint laxity, Nail-biti...	OMIM:620330
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes cal...	ORPHA:2614
Pycnodysostosis	Abnormal clavicle morphology, Micrognathia, Generalized osteosclerosis, Narrow chest, Hypoplastic...	ORPHA:763
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax...	ORPHA:263501
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Pectus carinatum, Severe sensorineural hearing impair...	ORPHA:500
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria...	OMIM:309000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Rosaï-Dorfman Disease	Osteolysis	ORPHA:158014
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Recurrent frac...	ORPHA:2772
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Sensorineural hearin...	ORPHA:95513
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi...	ORPHA:682
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, F...	OMIM:203400
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Vasculitis, Hypoalbum...	OMIM:308240
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Tho...	ORPHA:909
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce...	ORPHA:2785
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m...	ORPHA:221120
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ataxia, Arachnodactyly, Short neck, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Flexi...	ORPHA:562528
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Codas Syndrome	Short metacarpal, Hydroureter, Ventricular septal defect, Congenital hip dislocation, Abnormal de...	ORPHA:1458
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy...	OMIM:616414
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Sensorineural hearing impairment, Recurrent pneumonia, Hepatitis, Weigh...	ORPHA:47
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Limitation of joint mobility, Small hand, Osteoporosi...	ORPHA:2796
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,...	ORPHA:2878
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite...	OMIM:252160
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Crackles, Sinu...	ORPHA:466650
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct...	ORPHA:1522
Cystic Echinococcosis	Elevated hepatic transaminase, Asthma, Bone cyst, Jaundice, Renal cyst, Weight loss, Abnormal hea...	ORPHA:400
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormality of the upper urinary tract, Micromelia, Abnormality of the urethra...	ORPHA:2145
Oculodentodigital Dysplasia	Neurogenic bladder, Ataxia, Abnormal pinna morphology, Conductive hearing impairment, 4-5 finger ...	OMIM:164200
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn...	OMIM:215150
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:245400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,...	OMIM:271650
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Hypocalcemia, Micr...	OMIM:602361
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Failure to thrive, Hypoh...	OMIM:617744
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Abnormal pericardium morphology, Dyspnea, Congestive heart failure...	ORPHA:67
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Aspiration pneumoni...	ORPHA:354
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Ataxia, Tapered finger, Inability to walk, Optic atrophy, Dysmetria, Rig...	OMIM:619576
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Abnormal circulating enzyme concentration or activity, Decreased nerve conduct...	ORPHA:565624
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, Bilateral renal hypoplasia, Atrial septal de...	OMIM:619488
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ...	ORPHA:93101
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol...	OMIM:616267
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Accessory carpal bones, Respiratory insuffici...	ORPHA:503
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Brain-Lung-Thyroid Syndrome	Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, Atrial s...	ORPHA:209905
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Abnormality of the middle ear ossicles, Abnormal foot morphology, Senso...	OMIM:609166
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing...	OMIM:151210
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Neonatal Severe Primary Hyperparathyroidism	Recurrent fractures, Aminoaciduria, Abnormal metaphysis morphology, Narrow chest	ORPHA:417
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Increased urinary tauri...	OMIM:615501
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Hernia, Endocardial fibroelastosis, Abnormal nerve cond...	ORPHA:93473
Autosomal Dominant Hypocalcemia	Congestive heart failure, Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Reduced bo...	ORPHA:428
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Hy...	ORPHA:168558
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Conductive hearing impairment, Clinodactyly...	ORPHA:391641
D-Glyceric Aciduria	Neonatal respiratory distress, Hypoglycemia, Optic nerve hypoplasia, Single transverse palmar cre...	OMIM:220120
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Joint stiffness, Dyspnea, Myocarditis, Osteolysis, Pul...	ORPHA:809
Chromosome Xq21 Deletion Syndrome	Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ...	OMIM:303110
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Hyponatremia, Hypovolemia, Elevated circulating alkaline phosphatase concentr...	ORPHA:275761
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila...	OMIM:618120
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Cond...	OMIM:136140
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Atrial septal defect, Hip contracture, Bilateral fetal pyelectasis,...	OMIM:300868
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Hy...	ORPHA:289548
Vipoma	Diabetes mellitus, Hypercalcemia, Anorexia, Respiratory insufficiency due to muscle weakness, Int...	ORPHA:97282
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated ci...	OMIM:608779
Oculoauriculofrontonasal Syndrome	Pericallosal lipoma, Ventricular septal defect, Micrognathia, Microtia, Scoliosis, Conductive hea...	ORPHA:398156
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal...	ORPHA:90791
Gaucher Disease Type 3	Mitral valve calcification, Increased bone mineral density, Proteinuria, Ataxia, Abnormal heart v...	ORPHA:77261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Atrial septal d...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Atrial septal d...	ORPHA:352665
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Impaired glucose tolerance, Lateral clavicle hook, Postaxial hand poly...	OMIM:615630
Sarcoidosis	Heart block, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitial nephritis, Cough, Emph...	ORPHA:797
Fanconi Anemia, Complementation Group F	Atrial septal defect, Sacral dimple, Pneumonia, Absent thumb, Conductive hearing impairment, Shor...	OMIM:603467
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Posteriorly rotated ears, Arachnodactyly, Long palm, Missing ribs, Dyspnea,...	ORPHA:2759
Leopard Syndrome 1	Bundle branch block, Limited elbow movement, Short neck, Protruding ear, Pectus carinatum, Microp...	OMIM:151100
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Position...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Position...	ORPHA:363958
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly...	OMIM:617671
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Abnormal form of the vertebral bodies, Enlarged thorax, Hernia, Cough, Chronic ...	ORPHA:579
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Elev...	OMIM:212138
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Brachydactyly, Mitral valve prolapse, Hypocalcemia, Nephropathy, Short dista...	ORPHA:1563
Familial Cold Urticaria	Arthritis, Polydipsia, Sensorineural hearing impairment	ORPHA:47045
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora...	OMIM:228520
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg...	OMIM:263750
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Depression, Weight loss, Irrit...	ORPHA:399
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck, Sho...	OMIM:612921
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Osteoporosis, Large hands, Abnormality of the vertebral column, B...	ORPHA:97685
Tetanus	Respiratory distress, Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration...	ORPHA:3299
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Hypoglycemia, Lacticaciduria, Depression...	OMIM:124000
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Tetralogy of Fallot, Dysmetria, Irritability, Aminoaciduria, Abnormality...	OMIM:250620
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Clinodactyly of the 5th finger, Conduct...	OMIM:611962
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Broad hallux, Aganglionic megacolon, Shortening of all distal phalanges of ...	OMIM:614749
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili...	OMIM:212720
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Weight lo...	ORPHA:913
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Ataxia, Elevated circulating creatine kinase concentrat...	OMIM:616878
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Bilateral single transverse palmar creases, Proxi...	ORPHA:1120
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ...	ORPHA:97292
Sandhoff Disease	Kyphosis	ORPHA:796
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangement, Hearing impai...	ORPHA:244
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars...	OMIM:601680
Leigh Syndrome	Multiple joint contractures, Choreoathetosis, Complex organic aciduria, Ataxia, Hypsarrhythmia, R...	ORPHA:506
Hereditary Central Diabetes Insipidus	Irritability, Polydipsia, Lethargy, Weight loss	ORPHA:30925
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology,...	OMIM:601076
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration, EEG with focal spikes, Ataxia	OMIM:616917
Crouzon Syndrome	Abnormal sacrum morphology, Optic atrophy, Respiratory insufficiency, Multiple suture craniosynos...	ORPHA:207
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Bilateral sensorineural hearing impairmen...	OMIM:602722
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Cough, Inability to walk, Weight loss, Increased susceptibility to fractures, ...	ORPHA:216866
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Cervical kyphosis, Short neck, Overweight, Tapered f...	ORPHA:401923
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Micrognathia, Cough, Atrial septal defect, Patent foramen ovale, Portal hypertension, Tapered fin...	OMIM:620005
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi...	ORPHA:33543
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Decreased nerve conduction velocity, In...	ORPHA:812
Autosomal Recessive Polycystic Kidney Disease	Micrognathia, Elevated gamma-glutamyltransferase level, Hyponatremia, Hypoventilation, Portal hyp...	ORPHA:731
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Pericardial effusio...	ORPHA:2136
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Glucose/Galactose Malabsorption	Failure to thrive, Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Pec...	ORPHA:2522
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia,...	OMIM:614739
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine...	OMIM:215140
X-Linked Intellectual Disability, Hedera Type	Pes planus, Inability to walk, Unsteady gait, Calcaneovalgus deformity, Obesity, Dysmetria, Absen...	ORPHA:93952
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Pectus carinatum, Narrow chest, Elevated gamma-glutamyltransferase level, Membranop...	OMIM:619525
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Turnpenny-Fry Syndrome	Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Conductive hearing...	OMIM:618371
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protei...	ORPHA:36238
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep...	OMIM:609049
Zygomycosis	Fasciitis, Sinusitis, Rhinorrhea, Acute infectious pneumonia, Cough, Nephritis, Hepatitis, Hemato...	ORPHA:73263
Cleidocranial Dysplasia	Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ...	ORPHA:1452
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Lateral clavicle hook, Early ossification of capital femoral epiph...	OMIM:208500
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Increased bone mineral density, Small for gestational ag...	OMIM:127000
Leptospirosis	Respiratory distress, Papilledema, Pericarditis, Anorexia, First degree atrioventricular block, C...	ORPHA:509
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E...	ORPHA:2616
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hea...	OMIM:619260
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Micrognathia, Lower limb asymmetr...	ORPHA:2135
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Ventricular septal defect, Micrognathia, Metatarsus adductus, Repetitive compul...	ORPHA:513456
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic cholestasis...	ORPHA:97283
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Fai...	OMIM:611590
Prune Belly Syndrome	Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ...	ORPHA:2970
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Micrognathia, Short toe, Abnormality of the elbow, Osteoarthri...	ORPHA:633
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic cholestasis...	ORPHA:97280
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Omenn Syndrome	Failure to thrive, Hypoproteinemia, Pneumonia	OMIM:603554
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Posterior rib fusion, Atrial septal ...	OMIM:265380
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope...	OMIM:133540
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, R...	OMIM:304050
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Dyspnea, Vertigo, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Ab...	ORPHA:73230
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Hypocalcem...	OMIM:212750
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Renal insufficiency, Ataxia, Apnea, Aganglionic megacolon, Tac...	ORPHA:2318
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr...	OMIM:612736
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h...	ORPHA:740
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Abnormality of cartilage of external ear, Tachypnea, Tetr...	ORPHA:3426
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Thickened ribs, Aggressive behavior, Heparan sulfate excretion in urine, Cardiomeg...	OMIM:252920
Immunodeficiency 32B	Sinusitis, Pneumonia, Bronchiectasis, Hypoalbuminemia, Failure to thrive	OMIM:226990
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Gait ataxia, Glucose intolerance, Lethargy, A...	ORPHA:254892
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand...	OMIM:214800
Pyruvate Carboxylase Deficiency	Anorexia, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plas...	ORPHA:3008
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, ...	OMIM:619127
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Proximal placement of thumb, Congenita...	ORPHA:199
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urin...	OMIM:252930
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Micropenis, Micrognathia, Hypocholesterolemia	OMIM:618810
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia...	ORPHA:195
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Inguinal hernia, Short neck, Mi...	OMIM:616266
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Propionic Acidemia	Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carboxylase deficie...	ORPHA:35
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibial bowing, ...	OMIM:601559
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator...	OMIM:614748
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, H...	OMIM:224690
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal circulating enzyme concentration or activity, Scarring, Abnormal circulating...	ORPHA:95159
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Pneumonia, Elevated circulating C-reactive protein concentration, Anorexia, Osteom...	OMIM:619381
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Short metacarpal, Hypospadias, Diabetes mellitus, Short metatarsal, Spinal canal s...	OMIM:614613
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct...	ORPHA:79126
Mohr Syndrome	Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:252100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Sensorineural hearing impairment, Osteolysis, Palmoplantar keratoderma, Palmoplantar h...	ORPHA:659
Branchiootic Syndrome	Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Atres...	ORPHA:52429
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos...	OMIM:259720
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Papilledema, Broad hallux, Absent malleus, Sagittal craniosynost...	OMIM:614188
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Heart block, Vertebral segmentation defect, Atrial septal...	OMIM:617063
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Maternal diabetes, Sensorineu...	ORPHA:3157
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Clubbing, Hematochezia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypom...	OMIM:175500
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu...	ORPHA:2502
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Posteriorly rotated ears, Pectus excavatum, Optic atrophy, Right bundle branch block,...	OMIM:618590
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Usher Syndrome Type 1	Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Depression, Abnormal...	ORPHA:231169
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Thickened ribs, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in uri...	OMIM:252900
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibi...	ORPHA:2475
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea...	ORPHA:87
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Sensorineural hearing im...	ORPHA:2158
Vici Syndrome	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Micrognathia, C...	OMIM:242840
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min...	ORPHA:261318
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag...	ORPHA:3077
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Condu...	OMIM:610536
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Short palm, Pes planus, Posteriorly rotated ears, Single transverse palmar crease, Aggressive beh...	ORPHA:466943
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ...	OMIM:271520
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Pneumonia, Dyspnea, Myocarditis, Hyperkalemia, Oliguria,...	ORPHA:544482
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	ORPHA:94090
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Cockayne Syndrome A	Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope...	OMIM:216400
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein...	ORPHA:60025
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Clinodactyly of the 5th finger, Atresia of t...	OMIM:221320
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ataxia, Ventricular septal defect, Situs inversus totalis, Sensorineural heari...	OMIM:249270
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, ...	ORPHA:537
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal finger flexion crea...	ORPHA:314585
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Shashi-Pena Syndrome	Short metacarpal, Posteriorly rotated ears, Hypoglycemia, Unilateral renal agenesis, Kyphosis, Cu...	OMIM:617190
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Elev...	ORPHA:93672
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Short 5th finger...	OMIM:133705
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum,...	OMIM:618162
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Jaundice, Hypoal...	ORPHA:64743
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Loss of ambulation, Elevated circulating alkaline phosphatase concentration, Elevated circulating...	OMIM:615424
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur...	ORPHA:52368
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaundice, Elevated ...	OMIM:214900
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Renal interst...	ORPHA:93126
Hemifacial Microsomia With Radial Defects	Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive hearing impairm...	OMIM:141400
Thoracic Dysplasia-Hydrocephalus Syndrome	Ataxia, Respiratory failure, Limb undergrowth, Narrow chest, Conductive hearing impairment, Abnor...	ORPHA:1861
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia	OMIM:240200
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno...	ORPHA:2319
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Optic disc pallor, Abnormal circulating enzyme concentration or activ...	ORPHA:79264
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to walk, Depression...	OMIM:128100
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Osteoporos...	ORPHA:186
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Renal insufficiency, Stiff neck, Shock, Elev...	ORPHA:319213
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Bicuspid aortic valve, Micrognathia, Cupped ear, Protruding ear, Microtia, Low-set e...	OMIM:616367
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior...	ORPHA:2021
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Micrognathia, Insulin resistance, Ventricula...	OMIM:619322
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Micrognathia, Short neck, Abnormality of ...	ORPHA:1486
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, Self-biting, Choreoathetosis, Atrial septal defect, Abnormal repetitive manner...	ORPHA:522077
Hypermobile Ehlers-Danlos Syndrome	Pes planus, Inguinal hernia, Apnea, Decreased nerve conduction velocity, Abnormal foot morphology...	ORPHA:285
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hypoglycemia, Sudden cardiac death, Renal tubular acidosis, Transi...	ORPHA:156
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Decreased ...	OMIM:618063
Treacher Collins Syndrome 4	Conductive hearing impairment, Respiratory failure requiring assisted ventilation, Micrognathia	OMIM:618939
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca...	OMIM:183900
Mosaic Trisomy 8	Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodacty...	ORPHA:96061
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Boudin-Mortier Syndrome	Long toe, Mallet finger, Pes planus, Joint laxity, Arachnodactyly, Elevated alkaline phosphatase ...	OMIM:619543
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Atrioventricular val...	ORPHA:3282
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Johnson Neuroectodermal Syndrome	Facial palsy, Preaxial hand polydactyly, Tetralogy of Fallot, Protruding ear, Microtia, Hand poly...	ORPHA:2316
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve conduction ...	ORPHA:1933
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c...	OMIM:278000
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase ...	OMIM:616833
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ea...	ORPHA:276422
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Weight loss, Inte...	ORPHA:97261
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Fasting hyperinsulinemia, Increased circulating ...	ORPHA:276152
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Mit...	OMIM:166200
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Kyphosis, Osteoporosis, Nephrolithiasis, Obesity, Glucose intolerance...	OMIM:219090
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment, Renal hypoplasia/aplasia	OMIM:267400
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti...	ORPHA:206443
Shwachman-Diamond Syndrome 1	Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Elevated hepatic transa...	OMIM:260400
Biotinidase Deficiency	Ataxia, Apnea, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Hyperammonemia, Organi...	OMIM:253260
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Micrognat...	ORPHA:1393
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Congenital Erythropoietic Porphyria	Osteopenia, Scarring, Increased connective tissue, Abnormal circulating porphyrin concentration, ...	ORPHA:79277
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, EEG abnormality, Elevated circul...	ORPHA:529665
Lassa Fever	Back pain, Shock, Dyspnea, Jaundice, Oliguria, Dysphagia, Cough, Hearing impairment	ORPHA:99824
Usher Syndrome Type 3	Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Vestibular hyp...	ORPHA:231183
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Tachycardia, Fasciitis, Pneumonia, Limited ...	ORPHA:39812
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Hypernatriuria, Hyposthenuria, Elevated ...	OMIM:300539
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Ketonuria, Ataxia, Elevated c...	ORPHA:480864
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Ataxia, Abnormal auditory evoked pot...	ORPHA:99027
Cataract 47	Glycosuria	OMIM:612018
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment, Finger syndactyly	ORPHA:1997
Trisomy 1Q	Microretrognathia, Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal ...	ORPHA:261344
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Neuropathy, Congenital, With Arthrogryposis Multiplex	Broad-based gait, Hyperlordosis, Calcaneovalgus deformity, Areflexia of lower limbs, Hyporeflexia...	OMIM:162370
Pyruvate Dehydrogenase Deficiency	Ataxia, Pectus excavatum, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th...	ORPHA:765
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Intermittent jaun...	ORPHA:97278
Rabin-Pappas Syndrome	Hyponatremia, Hypoventilation, Failure to thrive in infancy, Optic nerve hypoplasia, Micrognathia...	OMIM:620155
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Ventricular septal...	OMIM:610978
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Omphalocele, Ventricular septal defect, Thoracic hypoplasia, Mi...	OMIM:617895
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Ataxia, Allergic rhinitis, Asthma, Sensorineural hearin...	OMIM:615816
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Ec...	OMIM:613309
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, ...	ORPHA:1834
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Horseshoe kidney, Microtia, Atresia of the external auditory canal, Conduc...	ORPHA:2213
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Abnormal pinna morphology, Facial palsy, Hyperlor...	ORPHA:3068
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Nephrocalcinosis, Tympanosclerosis, Type I diabetes mellitus, Enamel hy...	OMIM:240300
Alkaptonuria	Vertebral fusion, Low back pain, Mitral valve calcification, Kyphosis, Aortic valve calcification...	OMIM:203500
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Co...	OMIM:617403
Citrullinemia Type I	Ataxia, Tachypnea, Hyperammonemia, Ankle clonus, Hepatic failure, Elevated plasma citrulline, Let...	ORPHA:247525
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Hypoalbuminemia, Hypernat...	OMIM:615508
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Micrognathia, Congestive heart failure, Absence of subcut...	OMIM:176670
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Obesity, A...	ORPHA:2180
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, 2-3 toe syndactyly, Palmoplantar keratoderma, Atresia of ...	OMIM:106260
Sickle Cell Anemia	Osteomyelitis, Osteoporosis, Elevated circulating creatinine concentration, Hypoxemia, Unconjugat...	ORPHA:232
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal rib morphology, Sprengel anomaly, Decreased skul...	ORPHA:2097
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Osteoglophonic Dysplasia	Respiratory distress, Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of fing...	OMIM:166250
Severe Congenital Nemaline Myopathy	Hypospadias, Facial palsy, Increased connective tissue, Multiple prenatal fractures, Abnormal tho...	ORPHA:171430
Pgm3-Cdg	Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Ataxia, Allergic ...	ORPHA:443811
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Refsum Disease	Renal insufficiency, Short metacarpal, Ataxia, Heart block, Abnormal foot morphology, Sensorineur...	ORPHA:773
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension, F...	OMIM:177735
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Inability to walk, Bilateral conductive hearing impairme...	OMIM:617802
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Waddling gait, Barrel-shaped chest, Short metaca...	OMIM:607326
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Osteopenia, Short metacarpal, Hypoplastic sacrum, Small for gestational age, Poste...	OMIM:614813
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Low-...	OMIM:608629
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Pes pla...	OMIM:614557
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc...	ORPHA:508533
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Inability to walk, Sensorineural hearing impairment, Shortening of all dis...	OMIM:614207
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Urinary incontinence, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Cockayne Syndrome Type 3	Flexion contracture, Adult onset sensorineural hearing impairment, Conductive hearing impairment,...	ORPHA:90324
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Micrognathia, Short neck, Abnormal enchondral ossification, Short tho...	ORPHA:93298
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Elevated circulating cre...	OMIM:610131
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Lo...	ORPHA:2463
Cutis Laxa, Autosomal Recessive, Type Iic	Knee flexion contracture, Nephrocalcinosis, Atrial septal defect, Micropenis, Patent foramen oval...	OMIM:617402
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Ataxia, Bicuspid aortic valve, Ventricular septal defect, Aggressive ...	ORPHA:457279
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Scoliosis, Short neck	OMIM:611890
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi...	OMIM:612877
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral ...	OMIM:166220
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali...	OMIM:616828
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Narrow ...	OMIM:266920
Lacrimoauriculodentodigital Syndrome	Micrognathia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal digit morphology, Sy...	ORPHA:2363
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respirato...	OMIM:615838
Chromomycosis	Abnormal foot morphology, Ankylosis, Abnormality of the lower limb, Osteolysis, Atypical scarring...	ORPHA:182
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Cough, Conductive ...	OMIM:616726
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,...	ORPHA:1215
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Protruding ear, Internal hemorrhage, Hypospadias, Ver...	ORPHA:286
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg...	ORPHA:45452
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Hypotriglyceridem...	ORPHA:404454
Carbamoyl-Phosphate Synthetase 1 Deficiency	Respiratory insufficiency, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargi...	ORPHA:147
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Asthma, Sensorineural hearing impairment, Short toe, Obesity, Cone-shaped epiphyses o...	OMIM:619269
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Shock, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wast...	ORPHA:90794
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal localizat...	ORPHA:3429
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal penis...	ORPHA:2461
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio...	OMIM:109120
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ...	OMIM:200600
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste...	OMIM:309350
Aspergillosis	Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Dyspnea, Asthma, Chronic pulmonar...	ORPHA:1163
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi...	ORPHA:881
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert...	ORPHA:958
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly...	ORPHA:264580
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Micrognathia, Atrial septal defect, Conductive hearing impairment, Micrope...	OMIM:612289
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Conductive hearing impairment,...	OMIM:620186
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, ...	OMIM:608758
Galactosemia I	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:230400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Recurrent pneumonia, Hyperkalemia, Bronchiect...	ORPHA:293978
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Joubert Syndrome	Ataxia, Apnea, Episodic tachypnea, Aganglionic megacolon, Situs inversus totalis, Abnormal form o...	ORPHA:475
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Anorexia, Oliguria, Weight loss, Progressive hearing impairment, Increased circul...	ORPHA:514
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Re...	ORPHA:2167
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Talipes, Tarsal synostosis, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Irrit...	ORPHA:90038
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence, Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Dysphagia, Abnorma...	ORPHA:225147
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ...	ORPHA:2010
Stimmler Syndrome	Aminoaciduria, Abnormal dental enamel morphology, Ataxia, Type II diabetes mellitus	ORPHA:3199
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, ...	ORPHA:397590
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragma...	ORPHA:818
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chroni...	OMIM:251000
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect...	OMIM:249420
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Tachypnea, Dilated cardiomyopathy, Optic atrophy, Respiratory insuf...	OMIM:614299
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Failure to thrive, Hypocholeste...	ORPHA:71
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:48431
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m...	ORPHA:1297
Down Syndrome	Single transverse palmar crease, Short palm, Conductive hearing impairment, Hypoplastic iliac win...	OMIM:190685
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Mixed hearing impairment, Facial palsy, Abnormal thorax morphology, Flared...	OMIM:218400
Mucopolysaccharidosis, Type X	Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyp...	OMIM:619698
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, Positive ferric chloride test	OMIM:250900
Bartter Syndrome Type 4	Renal salt wasting, Protruding ear, Nephrocalcinosis, Increased circulating renin level, Hyponatr...	ORPHA:89938
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Talipes, Camptodactyly of finger, Craniosynost...	ORPHA:83
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Supernume...	ORPHA:163961
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Microgna...	OMIM:608149
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:887
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Fa...	OMIM:612075
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Tachycardia, Ventricular septal defect, Elevated circulating creat...	OMIM:614921
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral ...	ORPHA:2162
Joubert Syndrome 23	Polydactyly, Sensorineural hearing impairment, Tachypnea, Apnea	OMIM:616490
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Mixed hearing impairment, Dextro...	OMIM:620305
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, ...	OMIM:617506
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Pes planus, Aortic regurgitation, Inguinal hernia, Genu recurvatum, Pectus excavatu...	OMIM:225320
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Ataxia, Irritability, Elevated circulating alkaline phosphatase co...	OMIM:613489
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Apla...	ORPHA:2306
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Leprechaunism	Reduced subcutaneous adipose tissue, Long foot, Insulin resistance, Long penis, Hyperinsulinemia,...	ORPHA:508
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus...	OMIM:202650
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen oval...	OMIM:269860
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:618484
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Mixed hearing impairment, Aortic regurgitation, Ataxia, Pneumonia,...	ORPHA:309288
Distal Deletion 19P	Low-set, posteriorly rotated ears, Long toe, Vaginal hernia, Ventricular septal defect, Arachnoda...	ORPHA:96129
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Pectus carinatum, Narrow chest, Broad ribs, Jo...	OMIM:304150
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Renal cyst, Narrow chest, Atrial septal defect, Patent foramen ovale, S...	OMIM:613610
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Hypoglyce...	ORPHA:137675
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Papillon-Lefèvre Syndrome	Arachnodactyly, Cigarette-paper scars, Osteolysis, Palmoplantar hyperkeratosis, Palmoplantar kera...	ORPHA:678
Familial Isolated Hypoparathyroidism	Nephropathy, Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Chorioretinal scar, Elevated circulating C-reactive protein concentration, Anorexia,...	ORPHA:91500
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior,...	OMIM:213300
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Hyperglycemia, Hypop...	OMIM:600001
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, In...	ORPHA:231625
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Crackle...	OMIM:233450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Athetosis, Hypokalemia, Hy...	OMIM:615474
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increased circulating ferritin conce...	ORPHA:158048
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Small for gestational age, Ataxia, Overlapping toe, Scarring,...	ORPHA:99843
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Pulmonary embolism, Hyperhomocystinemia, Lethargy, Glome...	ORPHA:79282
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter...	ORPHA:860
Digeorge Syndrome	Micrognathia, Hypocalcemia, Femoral hernia, Chronic pulmonary obstruction, Obesity, Scoliosis, Lo...	OMIM:188400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci...	OMIM:620300
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-re...	ORPHA:90051
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,...	ORPHA:1517
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Achilles ...	ORPHA:178382
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b...	OMIM:274000
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Juvenile Polyposis Syndrome	Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive	OMIM:174900
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Conductive hearing impairment, Umbilica...	ORPHA:2095
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Marchiafava-Bignami Disease	Ataxia, Urinary incontinence, Facial palsy, Aggressive behavior, Vertigo, Depression, Gait ataxia...	ORPHA:221074
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu...	OMIM:276820
Dermotrichic Syndrome	Aganglionic megacolon, EEG abnormality, Aminoaciduria, Macrotia, Abnormal vertebral morphology	ORPHA:99688
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Inguinal hernia, Uplifted earlobe, Micrognathia, Pectus excavatum, Wide anterior fontanel, Renal ...	OMIM:618548
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Tachypnea, Aortic valve atresia, Dysmetria, Hyperglycemia, K...	OMIM:220111
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Irritability, Organic aciduria, Elevated urinary 3-methylcrotonylglyci...	OMIM:253270
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Calcaneovalgus deformity, Flexion ...	ORPHA:2152
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Increased iduronate sulfata...	OMIM:252600
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme...	ORPHA:206436
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:2578
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Atrophic scars, Palmoplantar keratoderma, Hypoalbuminemia, Enamel hyp...	ORPHA:79396
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, Narrow ches...	OMIM:200980
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Abn...	ORPHA:1546
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Monosomy 9Q22.3	Hyperactivity, Short neck, Large for gestational age, Kyphosis, Pectus excavatum, Plantar pits, A...	ORPHA:77301
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Micrognathia, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaci...	OMIM:604273
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Di...	ORPHA:178320
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met...	ORPHA:99646
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Abnormal form ...	ORPHA:1788
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat...	OMIM:615422
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla...	OMIM:618061
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Talipes, Abnormality of the hand, Aggressive behavior...	OMIM:192430
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Hypospadias...	ORPHA:2588
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Pneumonia, Jaundice, Hyperkalem...	ORPHA:90790
Meier-Gorlin Syndrome 6	Microretrognathia, Small for gestational age, Posteriorly rotated ears, Sandal gap, Emphysema, Pa...	OMIM:616835
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Hepatic failure, Elevated circ...	OMIM:235555
Brachycephaly, Trichomegaly, And Developmental Delay	Prominent fingertip pads, Single transverse palmar crease, Low-set ears, Conductive hearing impai...	OMIM:617412
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Oroticaciduria, Tachypnea, Spastic gait, Hepatitis, Hyperammonemia...	ORPHA:415
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Brachydactyly, Narrow internal auditory canal, Short neck, Ectop...	ORPHA:233
Isolated Cleft Lip	Small for gestational age, Situs inversus totalis, Abnormal Eustachian tube morphology, Talipes e...	ORPHA:199302
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Broad finger, Abnormal auditory evoked potentials	OMIM:617523
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bo...	ORPHA:138
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Short neck, Abnormal rib morphology, Obesity, Hemivertebr...	ORPHA:2234
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Joubert Syndrome 2	Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Abnormal foot morphology, Postaxi...	OMIM:608091
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma...	ORPHA:57777
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Weight loss	ORPHA:79238
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h...	ORPHA:86839
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Protruding ear, Finger cl...	ORPHA:2751
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:619662
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Absent brainstem auditory responses, A...	ORPHA:79330
Native American Myopathy	Joint laxity, Micrognathia, Inability to walk, Respiratory insufficiency, Abnormal curvature of t...	ORPHA:168572
Gamma-Heavy Chain Disease	Osteolysis, Rheumatoid arthritis, Dysphagia	ORPHA:100026
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Vesicoureteral reflux, Micropenis, Short phala...	OMIM:616894
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Rhinorrhea, Myocarditis, Oliguria, Cardiorespiratory arrest, W...	ORPHA:188
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Abnormal hear...	ORPHA:2237
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Recurrent fractures, Aciduria, C...	ORPHA:416
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Tick-Borne Encephalitis	Back pain, Elevated hepatic transaminase, Stiff neck, Facial palsy, Elevated circulating C-reacti...	ORPHA:297
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of fi...	ORPHA:391474
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone...	ORPHA:93325
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Hypokalemia, Respiratory fail...	ORPHA:330021
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calc...	OMIM:271665
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Ataxia, Abnormal pattern of respiration	ORPHA:833
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Low alkaline phosphatase, Irritability, Decreased serum zinc, Emotional lability, Failure...	OMIM:201100
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Conductive hearing impairment,...	ORPHA:1131
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Addi...	ORPHA:90065
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-res...	ORPHA:79086
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemia, Optic neuro...	ORPHA:2609
Pendred Syndrome	Abnormal vestibular function, Increased circulating thyroglobulin level, Cochlear malformation, C...	OMIM:274600
Orofaciodigital Syndrome Type 4	Finger syndactyly, Microtia, third degree, Renal agenesis, Posteriorly rotated ears, Micromelia, ...	ORPHA:2753
Johanson-Blizzard Syndrome	Single transverse palmar crease, Conjugated hyperbilirubinemia, Hypocalcemia, Elevated gamma-glut...	OMIM:243800
Isolated Biliary Atresia	Elevated hepatic transaminase, Small for gestational age, Dark yellow urine, Conjugated hyperbili...	ORPHA:30391
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal circulating enzyme con...	ORPHA:206448
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t...	OMIM:612098
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers...	OMIM:617022
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with central focal spikes, Broad ribs, Abnormal repetitive mannerisms, Broad metacarpals, Hyp...	OMIM:301066
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas, Tricuspid valv...	ORPHA:2396
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Micrognathia, Epispadias, Anotia, Clinodactyly of the ...	ORPHA:2554
Caroli Disease	Anorexia, Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice,...	ORPHA:53035
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Narrow foot, Gait ataxia, Finger c...	ORPHA:2896
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Micrognathia, Short neck, Limi...	OMIM:615065
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Conductive hearing impairment, Abnormal antihelix morphology, Limitation of joint mobility, Micro...	ORPHA:3145
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Yellow Fever	Shock, Low back pain, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentra...	ORPHA:99829
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, V...	ORPHA:116
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive, Tu...	OMIM:263000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Apnea, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine le...	OMIM:210200
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatic ...	OMIM:613812
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis	OMIM:619797
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Clinodactyl...	ORPHA:709
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Ataxia, Aminoaciduria, Clinodactyly, Pulmonary hemorrhage	OMIM:603585
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Interstitial Lung And Liver Disease	Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hepatic failure, Elevated...	OMIM:615486
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Pendred Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hypoplasia of th...	ORPHA:705
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicor...	OMIM:616300
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Missing ...	ORPHA:1647
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Respiratory insufficiency, ...	ORPHA:861
Primrose Syndrome	Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Irregular vertebral ...	OMIM:259050
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis	ORPHA:352490
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Clinodactyly of the 5th finger, Chronic otitis media,...	ORPHA:2750
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, H...	OMIM:307030
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,...	ORPHA:3301
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Proteinuria, Postaxial polydactyly, Asthma, Postaxial...	OMIM:619471
Weill-Marchesani Syndrome 2	Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype...	OMIM:608328
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Omphalocele, Ventricular septal defect, Cam...	ORPHA:3380
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ...	OMIM:619484
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Atrial septal defect, Vesicoureteral re...	ORPHA:857
Marfan Syndrome	Bicuspid aortic valve, Genu recurvatum, Micrognathia, Equinus calcaneus, Incisional hernia, Flexi...	OMIM:154700
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis	OMIM:204730
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Crouzon Syndrome	Sagittal craniosynostosis, Optic atrophy, Atresia of the external auditory canal, Lambdoidal cran...	OMIM:123500
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Calcaneovalgus deformity, Flexion ...	ORPHA:261537
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Glycosylphosphatidylinositol Biosynthesis Defect 11	Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Inguinal hernia, Hypsa...	OMIM:616025
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Anorexia, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Pectus...	OMIM:218040
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Obesity, Low-set ears, Thickened helices, Overfolded helix, Neonatal hy...	OMIM:608624
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu...	OMIM:613243
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia, Oral-pharyngeal dysp...	ORPHA:99772
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Anorexia, Jaundice, Elevated circulating ...	ORPHA:521219
Campomelia, Cumming Type	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia...	ORPHA:1318
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Small for gestational age, Jaundice...	ORPHA:69665
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Micrognathia	OMIM:300946
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Low alkaline phosphatase, I...	OMIM:146300
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae,...	ORPHA:3404
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger, Irritability, Dysphagia, EEG with generalized slow ac...	OMIM:618367
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Jaundice, Hyperkalemia, Elevated gamma-...	OMIM:608885
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Pericarditis, Epista...	ORPHA:727
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Sensorineural hearing impairment, Elevated circulating alanine aminotr...	OMIM:618500
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal...	ORPHA:3015
Congenital Myopathy 13	Kyphoscoliosis, Hypercapnia, Micrognathia, Flexion contracture, Hypoxemia, Restrictive ventilator...	OMIM:255995
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Middle Ear Neuroendocrine Tumor	Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu...	ORPHA:100084
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Renal cys...	OMIM:113620
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing i...	OMIM:608257
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Weight loss	ORPHA:95626
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Optic nerve hypoplasia, Short neck, Overweight, Sensorineural hearing impairment, D...	ORPHA:226307
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Serotonin Syndrome	Restlessness, Tachycardia, Tachypnea, Irritability, Hypertension, Agitation, Hypotension, Hepatic...	ORPHA:43116
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria, Hearing impairment	ORPHA:414
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat...	ORPHA:100085
Chikungunya	Epistaxis, Joint stiffness, Raynaud phenomenon, Periostitis, Ankle joint effusion, Osteolysis, Pe...	ORPHA:324625
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Hypo...	OMIM:276700
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Joubert Syndrome 9	Episodic tachypnea, Apnea, Stage 5 chronic kidney disease, Scoliosis	OMIM:612285
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Calcaneovalgus deformity, Flexion ...	ORPHA:261552
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Apnea, Optic n...	OMIM:609069
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Faundes-Banka Syndrome	Pes planus, Micrognathia, Cupped ear, Microtia, Lumbar hemivertebrae, Long ear, Low-set ears, Dys...	OMIM:619376
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Microme...	OMIM:610682
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Fryns Syndrome	Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Large for ges...	OMIM:229850
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulat...	OMIM:601847
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Supraumbilical raphe	OMIM:606893
Cleft Palate, Deafness, And Oligodontia	Sandal gap, Bilateral conductive hearing impairment, Short hallux	OMIM:216300
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ...	OMIM:204690
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot mor...	ORPHA:1666
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the kidney, Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasi...	ORPHA:521445
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Decr...	ORPHA:231632
Renal Tubular Acidosis Iii	Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcino...	OMIM:267200
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bodies...	ORPHA:744
Sialidosis Type 2	Kyphosis	ORPHA:87876
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis	ORPHA:464282
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Renal agenesis, Micromelia, Short n...	OMIM:256520
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Otofaciocervical Syndrome 1	Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Hypoplasia of the cochlea, Cu...	OMIM:166780
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Anorexia, Hypoglycemia, Hemolytic-uremic s...	ORPHA:810
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Micrognathia, Question mark ear, Bilateral conductive he...	OMIM:615706
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal pinna morphology, Aplasia/Hypoplasia of th...	OMIM:219000
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Short neck, Abnormal rib morphology, Small hand, Short foo...	ORPHA:488434
Woolly Hair Nevus	Enlarged vestibular aqueduct, Brachydactyly	ORPHA:79414
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra...	OMIM:616881
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Congenital hip dislocation, Joint laxity, Arachnodactyly, Osteoporosis, Respiratory i...	OMIM:225400
Familial Hyperaldosteronism Type Ii	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:404
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Ost...	OMIM:618175
Estrogen Resistance Syndrome	Osteopenia, Elevated tissue non-specific alkaline phosphatase, Delayed epiphyseal ossification, O...	ORPHA:785
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi...	OMIM:615560
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Joubert Syndrome 30	Postaxial hand polydactyly, Tachypnea, Apnea	OMIM:617622
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Short neck, M...	OMIM:261540
Flynn-Aird Syndrome	Kyphosis, Scoliosis	ORPHA:2047
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Monosomy 9P	Hypospadias, Proximal placement of thumb, Short neck, Micrognathia, Abnormality of the tarsal bon...	ORPHA:261112
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphol...	ORPHA:2519
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy...	OMIM:107480
Argininosuccinic Aciduria	Failure to thrive, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypergl...	OMIM:207900
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, EEG abnormality, Aminoaciduria, Arrhythmia, Tetraamelia	OMIM:273400
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Joint stiffne...	ORPHA:56
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Absent frontal sinuses, Bronchiectasis, Immotile cilia, Chroni...	OMIM:244400
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Acute Promyelocytic Leukemia	Epistaxis, Anorexia, Productive cough, Diffuse alveolar hemorrhage, Vertigo, Weight loss, Hematur...	ORPHA:520
Craniofacial Microsomia 1	Ectopic kidney, Micrognathia, Hemivertebrae, Anotia, Conductive hearing impairment, Vesicouretera...	OMIM:164210
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Ataxia, Jaundice	ORPHA:33574
Kid Syndrome	Equinus calcaneus, Coxa valga, Scarring alopecia of scalp, Prelingual sensorineural hearing impai...	ORPHA:477
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Toe syndactyly, Condu...	OMIM:129900
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus ...	OMIM:300472
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:300280
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Optic neuropathy, Increased i...	OMIM:619727
Cleft Lip/Palate	Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia	ORPHA:199306
Lysinuric Protein Intolerance	Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentrati...	OMIM:222700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Myocarditis, Metaphyseal ch...	ORPHA:93317
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Phenylketonuria	Aminoaciduria	ORPHA:716
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Czech Dysplasia	Waddling gait, Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho...	ORPHA:2050
Unilateral Polymicrogyria	Apnea, Epistaxis, Abnormal heart morphology, Pseudobulbar paralysis, Infantile sensorineural hear...	ORPHA:268943
Cerebrooculonasal Syndrome	Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydactyly, Craniosynostosis, Postax...	OMIM:605627
Branchioskeletogenital Syndrome	Attached earlobe, Abnormality of the cervical spine, Abnormality of the vertebral spinous process...	ORPHA:1299
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydact...	OMIM:263520
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Postprandial hype...	ORPHA:681
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Micrognathia	OMIM:248390
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Fraser Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:2052
Thanatophoric Dysplasia	Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology	ORPHA:2655
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Impulsivity, Dysphagia	ORPHA:280195
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Conjugated hyperbi...	ORPHA:567983
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ...	OMIM:168000
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Combined Oxidative Phosphorylation Deficiency 14	EEG abnormality, Aminoaciduria, Hearing impairment, Elevated hepatic iron concentration	OMIM:614946
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Joint stiffness, Raynaud phenomenon, Tachy...	OMIM:615934
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Finger clinodact...	ORPHA:306542
Typical Nemaline Myopathy	Spinal rigidity, Short neck, Kyphosis, Hyperlordosis, Scoliosis	ORPHA:171436
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Ventricular septal defect, Abnormal dental enamel morphology, Micrognathia, Pr...	ORPHA:1071
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Micrognathia, Epispadias, Short metatarsal, Micropenis, Muscle hypertrophy...	ORPHA:1772
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:605479
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis	ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Increased urine succinate level, Bilateral fetal pyelectasis...	OMIM:606812
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
X-Linked Intellectual Disability, Armfield Type	Inguinal hernia, Micrognathia, Abnormality of the elbow, Small hand, Short foot, Aminoaciduria, A...	ORPHA:85276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Wieacker-Wolff Syndrome	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:314580
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia,...	OMIM:610768
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate aminotransferase ...	OMIM:619573
Tangier Disease	Hypertriglyceridemia, Facial diplegia, Hypocholesterolemia, Left ventricular hypertrophy, Coronar...	ORPHA:31150
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg...	OMIM:609136
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Patent urachus, Triphalangeal ...	OMIM:192350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive	OMIM:614520
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Herpes Simplex Virus Encephalitis	Hyponatremia, Respiratory failure requiring assisted ventilation, Elevated circulating C-reactive...	ORPHA:1930
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Low-set, posteriorly rotated ears, Hypoplasia of penis, Situs inversus tota...	ORPHA:990
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short neck	OMIM:608776
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract...	OMIM:616501
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Hypoca...	ORPHA:83471
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypospadias, Increased circulating corticosterone level, Hy...	ORPHA:90793
Argininosuccinic Aciduria	Ataxia, Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoar...	ORPHA:23
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Abnormal renal tubule morphology, Telangiectasia of the skin, Camptodactyly of...	ORPHA:2907
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Long penis, Intracranial hemorrhage, Hy...	ORPHA:90795
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98853
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis	OMIM:248800
Schaaf-Yang Syndrome	Kyphosis, Scoliosis	OMIM:615547
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti...	OMIM:610921
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies	OMIM:230500
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Caroli Syndrome	Elevated hepatic transaminase, Abnormality of the kidney, Portal hypertension, Conjugated hyperbi...	ORPHA:480520
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hyp...	ORPHA:70587
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Scoliosis, Spinal rigidity	OMIM:254090
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho...	ORPHA:1300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Nelson Syndrome	Increased urinary cortisol level, Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertensio...	ORPHA:199244
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Abnormality of the ureter, Aminoacid...	ORPHA:30
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis	OMIM:300354
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Hypospadias, Joint hypermobility, Oral-pharyngeal dysphagia, Joint stiffness, S...	OMIM:619184
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phospholipid ac...	OMIM:265120
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmati...	OMIM:606164
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Ataxia, Hypoglycemia, Jaundice...	ORPHA:90062
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:177200
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti...	OMIM:617088
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:94065
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hear...	OMIM:613717
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis	OMIM:618443
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea	OMIM:245050
Harrod Syndrome	Kyphosis, Scoliosis	ORPHA:2115
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodi...	ORPHA:93941
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Sandifer Syndrome	Hematemesis, Hiatus hernia, Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Congenital Myopathy 22A, Classic	Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity	OMIM:620351
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Waardenburg Syndrome	Conductive hearing impairment, Aganglionic megacolon, Hearing impairment	ORPHA:3440
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Cardiomegaly, Pectus excavatum, Tachypnea, Respiratory insufficiency, Ir...	OMIM:618278
Reynolds Syndrome	Calcinosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Jaund...	OMIM:613471
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def...	OMIM:606170
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Congenital sensorineural hearing impairment, Mixed hearing impairment, Palmoplantar keratoderma, ...	ORPHA:2698
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Vertigo,...	ORPHA:91347
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis	ORPHA:364028
3C Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Short neck	ORPHA:7
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Sensorineural hearing impairment, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria	OMIM:616084
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Ataxia, Telangiectasia of the skin, Senso...	ORPHA:910
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ...	OMIM:612290
Marden-Walker Syndrome	Kyphosis, Scoliosis, Short neck	OMIM:248700
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Scoliosis	OMIM:617061
Rh Deficiency Syndrome	Tachycardia, Jaundice, Tachypnea, Hypoxemia, Hyperbilirubinemia, Increased circulating lactate de...	ORPHA:71275
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Emanuel Syndrome	Kyphosis, Sacral dimple, Scoliosis	OMIM:609029
Cockayne Syndrome Type 2	Kyphosis, Scoliosis	ORPHA:90322
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re...	OMIM:218030
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment, Recurrent pneumonia, Ataxia	OMIM:620012
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Sensorineural hearing impairment, Meg...	OMIM:619351
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa...	ORPHA:555874
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Mixed hearing impairment, Pectus excavatum, Optic atrophy, Acetabular dysplasia...	OMIM:201180
Renal Tubular Dysgenesis	Anuria, Respiratory insufficiency, Abnormality of the urinary system, Hypotension, Renotubular dy...	OMIM:267430
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Abnormality of connective tissue, Addictive alcohol use, Rheumatoid...	ORPHA:399180
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypoglycemia, Hypertension, Hypokalemia, Increased circulating ...	ORPHA:786
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology...	ORPHA:2908
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypospadias, Absent tragu...	OMIM:603457
Estrogen Resistance	Osteopenia, Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Hyperinsuli...	OMIM:615363
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Norrie Disease	Diabetes mellitus, Cachexia, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protrudin...	ORPHA:649
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Netherton Syndrome	Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis	ORPHA:634
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:604804
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Scimitar Syndrome	Respiratory distress, Heart block, Hernia, Cough, Atrial septal defect, Single ventricle, Partial...	ORPHA:185
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:2479
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Interface...	ORPHA:562639
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Scoliosis, Short neck	ORPHA:85293
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Scoliosis	OMIM:616449
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating abil...	OMIM:610188
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Micro Syndrome	Kyphosis, Scoliosis	ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Scoliosis	OMIM:618493
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Hurler Syndrome	Short neck, Kyphosis, Hypoplasia of the odontoid process, Biconcave vertebral bodies, C1-C2 sublu...	OMIM:607014
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Triphalangeal thumb, Clinodactyly of th...	OMIM:149730
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:192
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Hypok...	OMIM:618426
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis	OMIM:610443
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis	OMIM:300966
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Dyspnea, Congestive heart failure, Oliguria, Heart murmur, Bacterial endoca...	ORPHA:1054
Distal Triplication 15Q	Kyphosis, Scoliosis	ORPHA:314588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis	OMIM:301040
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Scoliosis	OMIM:617602
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Scoliosis	ORPHA:500055
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
2P15P16.1 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261349
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Mucopolysaccharidosis, Type Ii	Kyphosis, Short neck	OMIM:309900
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Treacher Collins Syndrome 1	Micrognathia, Abnormal heart morphology, Microtia, Atresia of the external auditory canal, Conduc...	OMIM:154500
2Q31.1 Microdeletion Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck	ORPHA:251014
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating ren...	OMIM:202010
Alexander Disease	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:58
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs...	OMIM:615344
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly	ORPHA:1855
Cohen Syndrome	Kyphosis, Scoliosis	ORPHA:193
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Pectus excavatum, Sensorineural hearing impairment, Dilated ve...	OMIM:611584
Cdags Syndrome	Kyphosis	OMIM:603116
Otosclerosis 10	Otosclerosis	OMIM:615589
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis	OMIM:618050
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Scoliosis	ORPHA:464738
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Sudden cardiac death, Re...	ORPHA:991
Mgat2-Cdg	Kyphosis, Scoliosis	ORPHA:79329
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Tachypnea, Bicuspid pulmon...	ORPHA:3427
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Scoliosis	OMIM:619005
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis	OMIM:617527
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Atelis Syndrome 2	Kyphosis, Sacral dimple	OMIM:620185
Prader-Willi Syndrome	Kyphosis, Scoliosis	OMIM:176270
Ramon Syndrome	Kyphosis, Scoliosis	OMIM:266270
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Vertigo, Sensorineur...	OMIM:609242
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:464311
Classic Homocystinuria	Kyphosis, Scoliosis	ORPHA:394
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Tachypnea, Hypertension	OMIM:613834
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Dyrk1A-Related Intellectual Disability Syndrome	Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:464306
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Scoliosis, Short neck	OMIM:619194
Gallbladder Neuroendocrine Tumor	Anorexia, Intermittent jaundice, Weight loss, Elevated gamma-glutamyltransferase level, Elevated ...	ORPHA:100086
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Aspartylglucosaminuria	Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis	OMIM:208400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Kyphoscoliosis	ORPHA:3063
Camurati-Engelmann Disease	Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis	ORPHA:1328
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:300967
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Kyphosis, Scoliosis, Abnormal curvature of the vertebral column	OMIM:619475
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Scoliosis	ORPHA:2658
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:828
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Sacral dimple, Scoliosis	ORPHA:268261
Marfan Syndrome	Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Cowden Syndrome	Kyphosis, Scoliosis	ORPHA:201
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:2273
Neurofibromatosis Type 1	Kyphosis, Scoliosis	ORPHA:636
Acromegaly	Kyphosis, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Spinal canal stenosis	ORPHA:314769
Coffin-Siris Syndrome 1	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:135900
Wrinkly Skin Syndrome	Kyphosis, Scoliosis	OMIM:278250
Viss Syndrome	Kyphosis, Butterfly vertebrae, Scoliosis	OMIM:619472
Alström Syndrome	Kyphosis, Thoracic scoliosis, Lumbar scoliosis	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scube3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scube3.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state.	Developmental cell (June 2022)	Scube3^{tm1(KOMP)Vlcg}	35777353
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.	American journal of human genetics (December 2020)	Scube3^{tm1(KOMP)Vlcg}	PMC7820739
Scube3 is expressed in multiple tissues during development but is dispensable for embryonic survival in the mouse.	PloS one (January 2013)	Scube3^{tm1(KOMP)Vlcg}	PMC3558425

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Scube3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Scube3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Scube3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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