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Gene: Grem1 MGI:1344337

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

gremlin 1, DAN family BMP antagonist

Synonyms:

Grem, Drm, Cktsf1b1, gremlin

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 Grem1 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 Grem1 (1 diseases)
Human diseases predicted to be associated with Grem1 (1274 diseases)

The table below shows human diseases associated to Grem1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Mixed Polyposis Syndrome			ORPHA:157794

The table below shows human diseases predicted to be associated to Grem1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia	OMIM:236110
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Acrorenal Syndrome	Abnormal renal morphology, Hand oligodactyly	OMIM:102520
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg...	OMIM:611555
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly	ORPHA:2935
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Aplasia/Hypoplasia of t...	ORPHA:1837
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal agenesis, Talipes e...	OMIM:618845
Radial-Renal Syndrome	Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb	OMIM:179280
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ...	ORPHA:1471
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,...	OMIM:120400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop...	OMIM:614900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly	OMIM:172880
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi...	OMIM:615996
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Unilateral renal agenesis, Short distal phalanx of finger	OMIM:601355
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag...	OMIM:615993
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Camptodactyly	OMIM:246560
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ...	ORPHA:3258
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Joubert Syndrome 22	Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia	OMIM:615665
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous synda...	OMIM:236500
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly	OMIM:616589
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Renal hypoplasia, Radiouln...	ORPHA:171839
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widening, Renal hypop...	OMIM:614376
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P...	OMIM:618142
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Rhizomelia, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
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
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Lower Limb Malformation-Hypospadias Syndrome	Abnormal tibia morphology, Abnormality of the ureter, Hypospadias, Respiratory insufficiency	ORPHA:2487
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Micropenis, Finger joint hypermobility	OMIM:244200
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Renal hypoplasia, Absent thumb	OMIM:617784
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger...	OMIM:184260
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge...	ORPHA:3306
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Hogue-Janssen Syndrome 2	Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Deviation of the 5...	OMIM:616362
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Hypoplasia of the radius, Aplasia/Hyp...	ORPHA:245
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio...	ORPHA:141152
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone...	OMIM:600057
Burn-Mckeown Syndrome	2-3 toe syndactyly, Unilateral renal agenesis, Renal hypoplasia	OMIM:608572
Vacterl Association With Hydrocephalus	Radial club hand, Renal hypoplasia, Absent thumb	OMIM:276950
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux...	OMIM:616854
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly...	ORPHA:521308
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria,...	OMIM:604273
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, Clinodactyly of ...	OMIM:619758
Summitt Syndrome	Syndactyly	OMIM:272350
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Perching Syndrome	Respiratory distress, Cyanosis, Camptodactyly	OMIM:617055
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ...	OMIM:619951
Verheij Syndrome	Branchial cyst, Renal agenesis, Hip dislocation, Renal hypoplasia, Renal cyst, Short 5th finger, ...	OMIM:615583
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominent fingertip ...	OMIM:618494
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Cyanosis, Apn...	ORPHA:2257
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Radioulnar sy...	ORPHA:1788
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint contracture of the...	OMIM:618914
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd...	ORPHA:474
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb	OMIM:179250
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Eiken Syndrome	Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip...	ORPHA:79106
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Renal cyst, Neonatal death, Micropenis, Distal shortening...	OMIM:146510
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter...	ORPHA:1046
Braddock Syndrome	Preaxial hand polydactyly, Unilateral renal agenesis	ORPHA:52047
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali...	ORPHA:2491
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly	ORPHA:464288
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low...	ORPHA:93356
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k...	OMIM:602200
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Bresek Syndrome	Hypoplasia of the bladder, Postaxial hand polydactyly, Renal hypoplasia, Vesicoureteral reflux, R...	ORPHA:85284
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Nephroblastoma	OMIM:612918
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morphology, Renal hypoplasia,...	OMIM:609053
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Postaxial hand polydactyly, Mu...	OMIM:216360
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Hypospadias	OMIM:300934
Cutis Laxa, Autosomal Dominant 3	Hip dislocation, Talipes equinovarus, Unilateral renal agenesis, Adducted thumb	OMIM:616603
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Rocker bottom foot, Renal hypoplasia	OMIM:616258
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Abnormality of the kidney, Hypospadias, Unil...	ORPHA:363444
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Talipes eq...	OMIM:251230
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia	OMIM:254120
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Unilateral renal agenesis, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot	OMIM:183700
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Proximal tubulopathy, Hyperechog...	OMIM:614576
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Unilateral rena...	OMIM:113650
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Un...	OMIM:154400
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long bone, Fract...	OMIM:618188
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Mic...	OMIM:603467
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Renal hypoplasia	ORPHA:75389
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Patent ...	ORPHA:166272
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Renal hypoplasia, Radioulnar synostosis, Talipes equinovarus, Campto...	OMIM:248700
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Arthralgia of the hi...	ORPHA:93307
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Diaphanospondylodysostosis	Respiratory distress, Narrow pelvis bone, Myelomeningocele, Multiple renal cysts	ORPHA:66637
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo...	ORPHA:1765
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Shashi-Pena Syndrome	Short metacarpal, Deep palmar crease, Unilateral renal agenesis	OMIM:617190
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi...	OMIM:613091
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Rena...	OMIM:616300
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis	ORPHA:251046
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Abnormality of the elbow...	ORPHA:2673
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho...	ORPHA:95699
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Renal agenesis, Foot polydactyly	ORPHA:2155
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Renal hypoplasia	OMIM:616817
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Split hand, Micropenis, Abnormal pelvic girdle b...	OMIM:157900
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Abnormal localization ...	ORPHA:1825
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Micropenis, Limb undergrowth, Clinod...	OMIM:616541
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Renal insufficiency, Bowing of the legs, Delayed epiphyseal ossification, Enla...	OMIM:300554
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Renal cyst	OMIM:263630
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Takenouchi-Kosaki Syndrome	Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene...	OMIM:616737
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum...	OMIM:227270
Congenital Myopathy 17	Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc...	OMIM:618975
Prune Belly Syndrome	Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,...	ORPHA:2970
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormality of the ureter, Short fo...	ORPHA:3409
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla...	ORPHA:2842
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic...	OMIM:613390
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, Umbilical hernia	ORPHA:1035
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Emanuel Syndrome	Recurrent urinary tract infections, Congenital hip dislocation, Unilateral renal agenesis, Renal ...	OMIM:609029
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Large hands, Talipes...	ORPHA:3447
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia	OMIM:619053
Van Maldergem Syndrome 1	Short fourth metatarsal, Hypospadias, Renal hypoplasia, Cutaneous finger syndactyly, Talipes equi...	OMIM:601390
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Renal hypoplasia, Micropenis, ...	OMIM:615546
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5...	OMIM:180860
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Renal c...	OMIM:122470
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bilateral talipes equin...	OMIM:614083
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Rhyns Syndrome	Renal insufficiency, Radial bowing, Chronic kidney disease, Short long bone, Short femoral neck, ...	OMIM:602152
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand	ORPHA:177910
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, ...	OMIM:264480
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Anencephaly, Broad palm, Renal hypoplasia, S...	OMIM:269860
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m...	OMIM:617102
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia, Short foot, Short palm, Clinodactyly of the ...	ORPHA:264200
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Br...	OMIM:618419
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Interstitial Lung Disease 2	Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut...	OMIM:178500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Clinodactyly of the 2nd finger, Co...	ORPHA:221139
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence	OMIM:615284
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Dysspondyloenchondromatosis	Abnormal ulnar metaphysis morphology, Metaphyseal enchondromatosis, Abnormal fibula morphology, G...	ORPHA:85198
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Cerebrofacioarticular Syndrome	Syndactyly, Hypospadias, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Caudal appendage	ORPHA:314679
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Respirato...	OMIM:616733
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast...	OMIM:151210
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Cyanosis, Postaxial polydactyly, P...	OMIM:619879
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi...	OMIM:108721
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Polyd...	ORPHA:137914
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Ab...	ORPHA:2879
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Elbow flexion contracture, Genu valgum, ...	OMIM:619194
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra...	ORPHA:2145
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Emanuel Syndrome	Micropenis, Congenital hip dislocation, Renal hypoplasia, Unilateral renal agenesis	ORPHA:96170
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp...	ORPHA:199241
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Waardenburg Syndrome Type 3	Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ab...	ORPHA:896
Shox-Related Short Stature	Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under...	ORPHA:314795
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Emphysema	ORPHA:60
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo...	OMIM:600785
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu...	OMIM:619611
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Holzgreve Syndrome	Renal hypoplasia/aplasia, Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morp...	ORPHA:2167
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc...	OMIM:616414
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Renal cyst...	ORPHA:464306
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Neonatal...	OMIM:300219
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Overlapping toe, Abnormality of the hand, Hypospadias, Renal agenesis, Preaxial han...	ORPHA:508498
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Aminoaciduria, Pulmonary fibrosis, Glyc...	OMIM:618913
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn...	ORPHA:2437
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Clinodactyly of th...	ORPHA:457284
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Andersen-Tawil Syndrome	Small hand, 2-3 toe syndactyly, Renal hypoplasia, Short foot, Renal tubular dysfunction, Clinodac...	ORPHA:37553
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger...	OMIM:619218
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Radial Aplasia, X-Linked	Absent radius, Penile hypospadias	OMIM:312190
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal localization of kidney,...	ORPHA:3429
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi...	OMIM:619297
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary i...	OMIM:617303
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Respiratory insufficiency due to muscl...	ORPHA:1143
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Nephrolithiasis, Vesicoureteral reflux, Hip dysplasia, Talipes equin...	OMIM:617219
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Nephrocalcinosis, Aminoacidur...	OMIM:617913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Renal cyst, Short foot, Pelvic...	ORPHA:464311
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cyst...	OMIM:231680
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Cach Syndrome	Renal hypoplasia	ORPHA:135
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Renal hypoplasia, Umbilical hernia, Renal dysplasia	ORPHA:85321
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 finger cutaneous syndactyl...	OMIM:181270
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine	ORPHA:26792
Monosomy 5P	Finger syndactyly, Small hand	ORPHA:281
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi...	ORPHA:166119
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Weakness of the intrinsic hand muscles, Weakness of ...	ORPHA:98913
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff...	OMIM:608022
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia o...	ORPHA:3404
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Chronic kidney disease, Early ossificat...	OMIM:208500
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Bnar Syndrome	Renal agenesis, Abnormal fifth toe morphology	ORPHA:217266
Rauch-Steindl Syndrome	Clinodactyly of the 5th finger, Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Achondroplasia	Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bo...	OMIM:100800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Chitayat Syndrome	Hallux valgus, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary interst...	OMIM:617180
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Patent duc...	OMIM:607143
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis...	ORPHA:73246
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Omodysplasia 2	Short humerus, Hypospadias, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dist...	OMIM:164745
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ...	OMIM:156550
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, ...	OMIM:260400
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Micropenis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Neurooculorenal Syndrome	Hypoplasia of the bladder, Short hallux, Unilateral renal agenesis, Stage 2 chronic kidney diseas...	OMIM:620305
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Micropenis, Pe...	OMIM:270400
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Vesicoureteral reflux,...	OMIM:618460
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, ...	OMIM:241530
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly, Hypospadias	OMIM:619736
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney disease, V...	ORPHA:261222
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, 4-5 finge...	ORPHA:468631
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Osteogenesis Imperfecta, Type X	Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Recurrent pn...	OMIM:613848
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Tarp Syndrome	Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Single transverse ...	ORPHA:2886
Pallister-Hall Syndrome	Ectopic kidney, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypospadias, Umbilical hernia, ...	ORPHA:672
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Birt-Hogg-Dubé Syndrome	Emphysema, Renal cell carcinoma, Pneumothorax, Pulmonary sequestration	ORPHA:122
Grant Syndrome	Down-sloping shoulders, Tibial bowing	OMIM:138930
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ...	ORPHA:3309
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene...	ORPHA:487796
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Patent ductus arteriosus, Small hand, Upper limb undergrowth, T...	OMIM:608799
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hypospadias, Hand polydactyly, Broad thumb	OMIM:239710
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Talipes equinovarus, Respir...	OMIM:620011
Joubert Syndrome 33	Syndactyly	OMIM:617767
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Dyspnea, Respi...	ORPHA:2759
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Trisomy 13	Postaxial hand polydactyly, Patent ductus arteriosus, Abnormality of the ureter, Abnormal lung lo...	ORPHA:3378
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Aminoaciduria, Proximal tubulopathy	OMIM:612075
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera...	ORPHA:508488
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Short foot, Mi...	OMIM:618454
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac...	OMIM:619451
Ectodermal Dysplasia With Mental Retardation And Syndactyly	3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Adducted ...	OMIM:619334
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality of the ureter, ...	ORPHA:1770
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormality of the kidney, Neonatal asphyxia, Abnormal lung morph...	ORPHA:141127
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Nephroblastoma, Polydactyly	OMIM:602501
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Urinary incontinence, Palmoplantar cutis laxa, T...	OMIM:616482
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Abnorma...	OMIM:218600
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Cornelia De Lange Syndrome	Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplasia, Abnormal morphology of ulna, M...	ORPHA:199
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology	ORPHA:3224
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Phakomatosis Pigmentokeratotica	Spina bifida, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hemiatrophy, Nephro...	ORPHA:2874
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrot...	ORPHA:488627
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulm...	OMIM:620306
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Unilateral renal agenesis, Long fingers...	OMIM:213980
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Toe syndactyly, Camptodactyly of finger, Unilateral renal agenesis, Tapered fi...	ORPHA:261337
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hem...	ORPHA:2038
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Clubbing, Bro...	ORPHA:79128
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus, Clinodactyly ...	ORPHA:397590
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Hypospadias, Proximal placement ...	OMIM:217980
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand, Penoscrotal hypospadias	OMIM:616489
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis, Death in childhood	OMIM:615597
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc...	ORPHA:79404
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy...	OMIM:314390
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Re...	OMIM:277170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Stromme Syndrome	Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis	OMIM:243605
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Overlapping toe, Partial anomalous pulmonary ven...	OMIM:617478
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Restrictive Dermopathy 2	Respiratory distress, Overtubulated long bones, Short clavicles, Cyanosis	OMIM:619793
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism	OMIM:617660
7Q11.23 Microduplication Syndrome	Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Long fingers, Enuresis, ...	ORPHA:96121
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Camptodactyly of finger, Meningocele, Abnormality of the ureter, ...	ORPHA:2311
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Matthew-Wood Syndrome	Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita...	ORPHA:289
Townes-Brocks Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Hypospadias, Abnormality of the kidney...	ORPHA:857
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Recurrent respiratory infections, Respiratory distress, Postaxial polydactyly, T...	OMIM:300968
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy...	OMIM:114290
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Patent ductus arteriosus, Abnormality...	ORPHA:30
Meier-Gorlin Syndrome 1	Respiratory distress, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly o...	OMIM:224690
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, ...	ORPHA:435938
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Osteoglophonic Dysplasia	Respiratory distress, Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, Bro...	OMIM:166250
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodact...	ORPHA:90652
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,...	ORPHA:110
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse palmar crease, Hyp...	OMIM:210600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormal fibula morphology, Tibial bowing, Lower limb un...	ORPHA:3035
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Single transverse palmar crease, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing...	ORPHA:3304
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Tapere...	ORPHA:268261
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Unilateral ren...	ORPHA:99646
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Congenital Heart Block	Patent ductus arteriosus, Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Renal...	OMIM:118450
Diamond-Blackfan Anemia 1	Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ...	OMIM:105650
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla...	OMIM:200980
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Atelosteogenesis, Type I	Encephalocele, Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizom...	OMIM:108720
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Campomelic Dysplasia	Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ...	ORPHA:140
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Short ...	OMIM:263750
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Patent ductus arteriosus, Postaxial hand polydactyly, Pulmonary arterial hy...	ORPHA:2519
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n...	ORPHA:226313
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger...	OMIM:614407
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Ring Chromosome 21 Syndrome	Syndactyly, Clinodactyly, Small hand, Narrow palm	ORPHA:1445
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,...	OMIM:618019
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Hydroureter, Abnormal pelvis bone morphology, Camptodactyly of ...	ORPHA:2273
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Hydronephrosis	OMIM:220210
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis, Apnea, Cyanosis	OMIM:261680
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Camptodactyly of 2nd-5th ...	OMIM:600920
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Respiratory distress	ORPHA:289916
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub...	ORPHA:2804
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:201000
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Nasal poly...	ORPHA:183
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Brachydactyly	ORPHA:1133
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Absent thumb, Aplasia/Hypoplasia of ...	ORPHA:1234
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Ureteral triplication, ...	OMIM:104350
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott...	ORPHA:1692
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Adducted thumb	ORPHA:89844
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory d...	ORPHA:31826
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Split ...	ORPHA:958
Leopard Syndrome 1	Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal agenesis, Cubitus valgus,...	OMIM:151100
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral ...	OMIM:100100
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Short finger, Tapered finger	ORPHA:1867
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Repeated pneumothorac...	ORPHA:536467
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, ...	OMIM:192350
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on p...	OMIM:233450
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi...	OMIM:606763
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias, Abnormal hip bone morphology	ORPHA:2522
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv...	ORPHA:93271
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:2596
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r...	OMIM:268310
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f...	OMIM:252100
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Oliguria, Abnormal re...	ORPHA:90051
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ...	ORPHA:52
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ili...	ORPHA:1427
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly	ORPHA:261272
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormality of the ureter, P...	ORPHA:3253
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, In...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, In...	ORPHA:98914
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Single transverse palmar crease, Progeroid facial appearance, Atele...	OMIM:613177
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica...	OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists...	OMIM:600081
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Spina bifi...	ORPHA:322
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, A...	ORPHA:568
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Hip dislocation, Pyelonephritis, Bladder diverticulum, Talipes equinov...	ORPHA:90348
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger...	OMIM:268305
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias	OMIM:250790
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalang...	ORPHA:544503
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Abnormal renal morphol...	OMIM:207410
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:84
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hip dysplasia, Small hand, Renal hypoplasia, Tapered finger	OMIM:620005
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat...	OMIM:618150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Bare Lymphocyte Syndrome, Type I	Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis	OMIM:604571
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock...	OMIM:272950
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Hip dislocation	OMIM:614100
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Elbow flexion...	ORPHA:1145
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Hsd10 Disease, Infantile Type	Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary ...	ORPHA:391428
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly, Hip dislocation	ORPHA:171719
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae	OMIM:602473
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias	ORPHA:66629
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Small hand, Horseshoe kidney, Short foot	OMIM:617140
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Succinic Acidemia	Respiratory distress	OMIM:600335
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode, Bilateral talipes equinovarus	ORPHA:284417
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia, Genu valgum	OMIM:619321
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Multiple renal cysts, Talipes equinovarus, Reduced renal corticomedullary d...	OMIM:618733
Hypophosphatasia	Bowing of the long bones, Emphysema, Abnormal metaphysis morphology, Respiratory insufficiency	ORPHA:436
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Renal agenesis, Bronchitis, Lar...	ORPHA:1199
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Renal insufficiency	ORPHA:79312
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Hypospadias, Small hand, Short palm, Clinodactyly of the 5th fi...	ORPHA:1786
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis	OMIM:601186
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Anterior encephalocele	OMIM:601357
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Degcags Syndrome	Syndactyly, Recurrent urinary tract infections, Toe syndactyly, Hypospadias, Bilateral renal dysp...	OMIM:619488
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis, Clubbing	ORPHA:439
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Recurrent urinary tract infections, Short metatarsal, Renal hypoplasia, Cubitus...	OMIM:617157
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:227650
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesi...	OMIM:617667
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Abnorma...	ORPHA:93929
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:600901
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury	ORPHA:330021
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Hypospadias, Renal hypoplasia/aplasia, Myelomenin...	OMIM:219000
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Short middle pha...	ORPHA:391641
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Frontometaphyseal Dysplasia 1	Carpal synostosis, Bowing of the long bones, Hydroureter, Arachnodactyly, Interphalangeal joint c...	OMIM:305620
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia...	ORPHA:209905
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia	ORPHA:314655
Coffin-Siris Syndrome 1	Hydroureter, Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the ...	OMIM:135900
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Aminoaciduria, Ketonuria, Umbilical hernia	OMIM:614520
Breath-Holding Spells	Cyanosis	OMIM:607578
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis, Bronchiolitis, Exertiona...	ORPHA:254361
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Abnormality of the ki...	OMIM:123450
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Respiratory distress, Respiratory failure ...	OMIM:211530
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Smith-Magenis Syndrome	Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal localization of kid...	ORPHA:819
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Anencephaly, A...	ORPHA:1335
Fraser Syndrome	Encephalocele, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplas...	ORPHA:2052
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Cyanosis, Oliguria, Respiratory insufficiency	ORPHA:159
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Glomerulopathy	ORPHA:2169
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,...	ORPHA:2092
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Renal agenesis, Cyanos...	OMIM:306955
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a...	OMIM:271665
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Ureteral duplication, Rhizomelia, Single transverse palmar crease, ...	OMIM:261540
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa...	ORPHA:915
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Overlapping fingers, Overlapping toe, Recurrent respiratory infections	OMIM:619383
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Alkuraya-Kucinskas Syndrome	Overlapping toe, Cutaneous syndactyly, Micropenis, Talipes equinovarus, Camptodactyly, Hand clenc...	OMIM:617822
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, ...	ORPHA:17
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor	OMIM:207950
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of the thumb, Cl...	ORPHA:1439
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w...	ORPHA:98915
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Spina bifida, Abnormality of the kidney,...	ORPHA:261318
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hypoplasia of the radius, Ve...	ORPHA:140952
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Large placenta, Horseshoe ...	ORPHA:1708
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Toe clinodactyly, Cli...	ORPHA:217346
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Triceps weakness, Cough	ORPHA:86812
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Micromelia, Anencephaly	ORPHA:63862
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necros...	ORPHA:3342
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Hypospadias, Long fingers, Cutaneous syndactyly, Overlapping fingers	OMIM:618316
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal fem...	ORPHA:352540
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypoplasia/aplasia, Central Y-shaped met...	ORPHA:2754
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Ce...	OMIM:183900
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Micromelia, Fetal pyelectasis, Adducted thumb, Bilateral single transverse ...	ORPHA:50810
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Patent ductus arteriosus, Tachypnea, Anomalous pulmonary venous return, Hypoxemia	ORPHA:860
Dextrocardia	Congenital hip dislocation, Abnormal renal morphology, Abnormal lung lobation, Abnormality of the...	ORPHA:1666
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Tapered finger, Renal hypoplasia, Genu valgum, Micropenis, Talipes equinovarus, Radi...	OMIM:309580
Renpenning Syndrome 1	Hypospadias, Phimosis, Renal hypoplasia, Camptodactyly, Clinodactyly of the 5th finger, Synostosi...	OMIM:309500
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Postaxial h...	OMIM:308205
Adnp Syndrome	Respiratory distress, Recurrent urinary tract infections, Broad hallux, Sandal gap, Urinary incon...	ORPHA:404448
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Angioedema, Emphysema, Hematuria, Rest...	ORPHA:36412
Charge Syndrome	Hypoplasia of the ulna, Renal agenesis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, ...	OMIM:214800
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Prolonged neonatal jaundi...	OMIM:274150
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot	OMIM:271225
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Patent ductus arteriosus, Large hands...	ORPHA:363705
Rhombencephalosynapsis	Finger syndactyly, Abnormal renal morphology, Polydactyly, Complete duplication of thumb phalanx,...	ORPHA:59315
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Abnormality of the hand, Atelectasis, Sh...	ORPHA:333
Holocarboxylase Synthetase Deficiency	Respiratory distress, Organic aciduria, Tachypnea	ORPHA:79242
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Arachnodactyly, Bladder diverticulum, Umbilical hernia, Emphysema	OMIM:219100
22Q11.2 Deletion Syndrome	Arachnodactyly, Hypospadias, Spina bifida, Meningocele, Renal hypoplasia, Occipital myelomeningoc...	ORPHA:567
Episodic Ataxia Type 1	Hand clenching, Respiratory distress	ORPHA:37612
Lymphangioleiomyomatosis	Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Atelectasis, Dyspnea, E...	ORPHA:538
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Ethylmalonic Encephalopathy	Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Schwartz-Jampel Syndrome	Apnea, Micromelia, Coxa vara, Wrist flexion contracture, Death in infancy, Respiratory insufficie...	ORPHA:800
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Enlarged kidney, Pulmonary edema	OMIM:261740
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc...	OMIM:309350
Kallmann Syndrome-Heart Disease Syndrome	Micropenis, Pulmonary artery hypoplasia, Renal agenesis, Cyanosis	ORPHA:2326
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl...	ORPHA:537
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Brachioradialis areflexia, Recurrent pneumonia, 3-Methylglutaco...	OMIM:616271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca...	OMIM:271640
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria	OMIM:212140
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the ureter, Neoplasm of the lung, Renal cell carcinoma, Multiple ...	ORPHA:2869
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v...	ORPHA:1340
Pitt-Hopkins Syndrome	Single transverse palmar crease, Tapered finger, Broad fingertip, Small hand, Short metatarsal, F...	ORPHA:2896
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica...	OMIM:277440
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing	ORPHA:85165
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Apnea	OMIM:619580
Tetanus	Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr...	ORPHA:3299
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Brachydactyly	OMIM:614800
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicl...	ORPHA:2554
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus...	OMIM:617088
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Lim...	OMIM:166210
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias	OMIM:619272
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the ureter, Clubbing, Clubbing of fingers, Bladder polyp	OMIM:175200
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th...	ORPHA:464738
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Crackles, Atelectasis, Nonproductive cough, Oliguria, ...	ORPHA:319213
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn...	ORPHA:348
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Bacterial Toxic-Shock Syndrome	Respiratory distress, Recurrent urinary tract infections, Renal insufficiency, Sinusitis, Pneumon...	ORPHA:36234
Netherton Syndrome	Recurrent respiratory infections, Ectopic kidney, Asthma, Urticaria, Aminoaciduria, Emphysema, Hy...	ORPHA:634
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Williams-Beuren Syndrome	Hallux valgus, Recurrent urinary tract infections, Renal insufficiency, Down-sloping shoulders, A...	OMIM:194050
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Sandal gap, Patent ductus arteriosus, Small hand, Prominent fingertip pads	OMIM:612863
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Schinzel-Giedion Syndrome	Respiratory distress, Overlapping toe, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormal...	ORPHA:798
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones	ORPHA:1323
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly	ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ...	ORPHA:500095
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Hypospadias, Deep palmar crease, Toe clinodactyly, Cli...	ORPHA:254346
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Hyperextensibility of the finger joints, Internally rotated shoulders, Single tr...	OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Absent thumb, Horseshoe kid...	ORPHA:500150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in...	ORPHA:505248
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic...	OMIM:251000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Hypospadias, Tapered finger, Sho...	OMIM:619148
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Hand polydactyly, Abnormal hip bone morpholo...	ORPHA:7
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P...	ORPHA:2211
Triploidy	Finger syndactyly, Hypoplasia of penis, Meningocele, Hypospadias	ORPHA:3376
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:227645
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Lacticaciduria	OMIM:615595
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Abnormality of the kidne...	ORPHA:177907
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Preaxial hand polydact...	OMIM:227646
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Camptodactyly, Umbilical hernia, Clinodactyly	ORPHA:369891
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Fibular hypoplasia, Limited elbow flexion/...	OMIM:258315
Williams Syndrome	Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref...	ORPHA:904
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Epispadias, Postaxial hand polydactyly, Preaxial polydacty...	OMIM:615948
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphyseal ossificati...	ORPHA:289157
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Horseshoe kidney, Clinodactyly of the ...	ORPHA:96182
Microphthalmia, Syndromic 1	Syndactyly, Hydroureter, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Re...	OMIM:309800
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly	ORPHA:60040
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Increased urinary type 1 collagen N-terminal telopeptide level, Avascular necr...	ORPHA:93315
Poems Syndrome	Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory ...	ORPHA:2905
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Camptodactyly, Micropenis, Absent palmar crease	OMIM:614230
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli...	OMIM:305600
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin...	OMIM:601559
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arterio...	ORPHA:980
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Meningocele, Anenc...	ORPHA:1908
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Glomerular sclerosis,...	OMIM:223900
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Occipital encephalocele, Hypoplasia of the bladder, Camptod...	OMIM:249000
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Hypospadias, Palmoplantar cutis laxa, Limited elbow extension	OMIM:123790
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
X Small Rings	Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe syndactyly, Upper limb undergrowth, Cu...	ORPHA:96201
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, 4-5 toe ...	OMIM:300707
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal	ORPHA:1787
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac...	ORPHA:2461
Bardet-Biedl Syndrome 1	Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:209900
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Brachydactyly, Recurrent urinary tract in...	OMIM:616268
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ...	OMIM:143095
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p...	ORPHA:1329
Diamond-Blackfan Anemia 10	Respiratory distress, Patent ductus arteriosus, Renal duplication, Ectopic kidney	OMIM:613309
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Hip dysplasia, Polydactyly, Ureteropelvic junc...	ORPHA:2729
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Camptodactyly of finger, Short hallux, Apl...	ORPHA:2710
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contractur...	OMIM:620369
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Hypospadias, Patellar apl...	OMIM:265000
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb	OMIM:610536
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl...	OMIM:151050
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Cyanosis, Increased pulmonary vascular resistance, Pat...	ORPHA:97214
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Renal cyst, Cough, Pulmonary edema	ORPHA:137675
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Cyanosis, Hypospadias, Apnea, Lacticaciduria, R...	OMIM:252010
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon...	OMIM:610915
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Long fingers, Unilateral renal hypoplasia, Tapered finger	OMIM:619950
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme...	ORPHA:1896
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hypospadias, Split hand, Radial deviat...	OMIM:305450
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis	ORPHA:990
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micropenis, Mesomelia, Camptodactyly, Vesicoureteral reflux, Clinodactyly, Short phal...	OMIM:616894
Buerger Disease	Acrocyanosis	ORPHA:36258
Rubinstein-Taybi Syndrome 1	Respiratory distress, Single transverse palmar crease, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:180849
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Abnormal metacarpal morphology, ...	ORPHA:284160
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Cocaine Intoxication	Respiratory distress, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrhage, Hyperventilat...	ORPHA:90068
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormality of the upper limb, D...	ORPHA:1556
Familial Visceral Myopathy	Hydroureter, Arachnodactyly, Camptodactyly of finger, Megacystis, Vesicoureteral reflux, Umbilica...	ORPHA:2604
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Overlapping fingers, Pulmonary edema	ORPHA:79330
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia...	OMIM:244400
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality...	ORPHA:974
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Epispadias, Cutaneous syndactyly, Radial deviation o...	OMIM:148050
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Coccidioidomycosis	Respiratory distress, Renal insufficiency, Pneumonia, Abnormality of the kidney, Cough, Abnormali...	ORPHA:228123
Chand Syndrome	Atelectasis, Short fifth metatarsal, Hydroureter	ORPHA:1401
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Aplasia/Hypoplasia of th...	ORPHA:79500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Aortopulmonary window, Pulm...	ORPHA:99050
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection...	ORPHA:805
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Orofaciodigital Syndrome Type 1	Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto...	ORPHA:2750
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura	OMIM:608013
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea	ORPHA:3426
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Familial Dysautonomia	Recurrent respiratory infections, Renal insufficiency, Glomerulopathy, Abnormality of the kidney,...	ORPHA:1764
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Pollakisuria, Ca...	OMIM:227330
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Arachnodactyly, Osteopathia striata, Spina bifida occulta, Fibular ...	OMIM:300373
Primary Hyperoxaluria	Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease...	ORPHA:416
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Umbilical hernia, Abnormal met...	ORPHA:1517
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Micropenis, Hip dysplas...	OMIM:176270
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Metap...	ORPHA:3206
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Hypoplastic scapulae, Aplastic clavicle, Sho...	OMIM:119600
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Hypospadias, Aplasia of the ulna, Absent thumb...	OMIM:268300
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Single transverse palmar crease, Heparan ...	OMIM:615273
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata, Pulmonary emb...	ORPHA:3260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Hematuria, Cough, Pl...	ORPHA:781
Cat Eye Syndrome	Renal agenesis, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Hydrone...	OMIM:115470
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Rothmund-Thomson Syndrome Type 2	Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metaphyseal sclerosis, P...	ORPHA:221016
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis	ORPHA:141099
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger	ORPHA:178303
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Hypopl...	ORPHA:233
Biotinidase Deficiency	Respiratory distress, Apnea, Myelopathy, Organic aciduria, Hyperventilation	ORPHA:79241
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,...	OMIM:269150
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus, Hydronephrosis	ORPHA:210122
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Patellar hypopla...	ORPHA:221008
Mgat2-Cdg	Patent ductus arteriosus, Recurrent upper and lower respiratory tract infections, Respiratory dis...	ORPHA:79329
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Urethral stricture, Hypospadias, Bowing of the legs, Aplasia/Hypoplasia of...	OMIM:617063
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Brachydactyly	OMIM:616028
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Abnormal metacarpal...	ORPHA:2658
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Myasthenia Gravis	Dyspnea, Acrocyanosis, Glycosuria	ORPHA:589
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Asthma, Nasal flaring, Pelvic kidney, Short palm, Dilatation of ...	ORPHA:466943
Sarcoidosis, Susceptibility To, 1	Dyspnea, Clubbing, Bronchiectasis, Hypercalciuria, Abnormal pulmonary interstitial morphology, Hy...	OMIM:181000
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci...	OMIM:259900
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Death in infancy, Glomerulopathy, Atelectasi...	ORPHA:534
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val...	ORPHA:193
Japanese Encephalitis	Respiratory distress, Irregular respiration, Elbow flexion contracture, Distal upper limb muscle ...	ORPHA:79139
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Broad palm	OMIM:618505
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ...	OMIM:603671
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Tubulointerstitial ...	ORPHA:37042
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Hypospadias, 3-4 finger syndactyly	OMIM:615877
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Metatarsus...	ORPHA:2215
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood, Joi...	OMIM:620278
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod...	OMIM:611174
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Atelectasis, Dyspnea, Erythema, Hematuria, Coug...	ORPHA:728
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Angiokeratoma, Tel...	ORPHA:324
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Renal dysplasia, Respiratory distress, Congenital hip dislocation, Overlapping toe...	ORPHA:480880
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contractu...	ORPHA:83617
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Ureteral duplication, Congenital hip dislocation, Toe syndactyly, Camptodactyl...	ORPHA:373
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Renal agenesis, Absent radius, Short thumb, Partial duplica...	OMIM:149730
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid...	OMIM:251100
Rapp-Hodgkin Syndrome	Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Hypospadias	OMIM:129400
Orofaciodigital Syndrome I	Syndactyly, Proteinuria, Myelomeningocele, Short 2nd toe, Polydactyly, Radial deviation of finger...	OMIM:311200
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Ketonuria, Methylmalonic aciduria	OMIM:251110
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po...	ORPHA:2751
Fucosidosis	Acrocyanosis, Mucopolysacchariduria, Vascular skin abnormality	ORPHA:349
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida	OMIM:616038
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Umbilical hernia, Renal dysplasia	OMIM:188400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Cardiac Valvular Dysplasia 1	Hydroureter, Cyanosis, Urethral diverticulum, Pulmonary artery atresia, Hydronephrosis	OMIM:212093
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Abnormal sacroiliac joint morphology, Enlargem...	ORPHA:289176
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Clinodactyly of the 5th finger, Mic...	ORPHA:96123
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif...	OMIM:200990
Robinow Syndrome	Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Bifid distal phalanx of the thumb, Mesom...	ORPHA:97360
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Rhizomelia, Hypospadias, Pr...	ORPHA:818
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pneumothorax, Hip dislocation, Recurrent pneumonia, Respirato...	ORPHA:90349
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Jaundice, 4-Hydroxyphenyl...	OMIM:617156
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Hypospadias, Renal agenesis, Avascular necrosis of the capital f...	ORPHA:2044
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Pyelonephritis, Respiratory failure, Acut...	ORPHA:533
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the...	ORPHA:2909
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Cyanosis, Stippled calcification of the shoulder, Abnorm...	ORPHA:51608
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split...	OMIM:604292
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits, Jaundice, Hepatocellular necrosis, Prolonged neon...	OMIM:256810
Oeis Complex	Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Epispadias...	OMIM:258040
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest	ORPHA:31824
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Spina bifi...	ORPHA:2308
Double Outlet Left Ventricle	Patent ductus arteriosus, Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Hip dislocation, Bladder...	ORPHA:287
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Hypospadias, Camptodactyly of ...	ORPHA:3107
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Symphalangism affecting the phal...	ORPHA:2990
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Aortic Arch Interruption	Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Aortopulmonary window, Exert...	ORPHA:2299
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Umbilical hernia, Palmoplantar keratoderma, Respiratory distress	ORPHA:1555
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul...	OMIM:618278
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ectopic kidney, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, B...	ORPHA:1519
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Neoplasm of the urethra...	ORPHA:2908
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi...	OMIM:620029
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Hartsfield Syndrome	Syndactyly, Micropenis, Ectrodactyly, Hypospadias	OMIM:615465
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Vesicoureteral reflux, Renal cyst, Hip dysplasia, Clinodactyly of the 5t...	OMIM:616975
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Pneumonia, Palpable pu...	ORPHA:48435
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Neurocardiofaciodigital Syndrome	Vesicoureteral reflux, Syndactyly, Polydactyly	OMIM:619869
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati...	ORPHA:95455
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb	ORPHA:87
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Pachyonychia Congenita	Respiratory distress, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar hyperkeratosis...	ORPHA:2309
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Spina bifida, ...	OMIM:256520
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Renal duplication, Distal urethral duplicat...	ORPHA:227
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Polydactyly,...	OMIM:613610
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Short hallux, Premature fusion of p...	OMIM:245150
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Multiple glomerular cysts, Apnea, Dyspnea, Episodic respiratory...	ORPHA:255210
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Patent ductus arteriosus, Pulmonary artery stenosis, ...	ORPHA:2255
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Limited wrist movement, Coxa valga, Hip dislocatio...	ORPHA:740
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Small hand, Fibular hypoplasia, Horseshoe kidney, Hypoplasia of proximal radius, Ves...	ORPHA:444077
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Dubowitz Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Single transverse palmar crease	OMIM:223370
Zygomycosis	Renal insufficiency, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia,...	ORPHA:73263
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Hypospadias, Ulnar bowing, Humeroradial sy...	OMIM:201750
Orofaciodigital Syndrome Type 4	Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Renal hypoplasia/aplasia,...	ORPHA:2753
Gitelman Syndrome	Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointer...	ORPHA:358
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Leptospirosis	Respiratory distress, Cellular urinary casts, Jaundice, Cough, Pleural effusion, Acute kidney inj...	ORPHA:509
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Dyspnea, Erythema, Resp...	ORPHA:2556
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia...	ORPHA:353277
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Cutis marmorata, Single...	OMIM:303600
Aspartylglucosaminuria	Umbilical hernia, Aspartylglucosaminuria, Abnormal morphology of ulna	ORPHA:93
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Hypospadias, Chordee, Micropenis, Urogenital sinus anomaly	OMIM:618820
Whim Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections...	ORPHA:51636
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly	OMIM:210900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Ramos-Arroyo Syndrome	Respiratory distress, Patent ductus arteriosus	ORPHA:1051
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f...	ORPHA:464
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly	ORPHA:1587
Hypermobile Ehlers-Danlos Syndrome	Apnea, Elbow dislocation, Cystocele, Hip dislocation, Umbilical hernia, Abnormality of the wrist,...	ORPHA:285
Coffin-Siris Syndrome 12	Hypospadias, Short thumb, Slender finger, Horseshoe kidney, Cutaneous syndactyly, Radioulnar syno...	OMIM:619325
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect...	OMIM:123700
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas...	OMIM:150230
Sarcoidosis	Renal insufficiency, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnor...	ORPHA:797
Aicardi-Goutières Syndrome	Micropenis, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Long penis, Hip dislocation, A...	ORPHA:744
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly	OMIM:620025
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Umbilical hernia, Hydronephrosis	OMIM:620330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma	ORPHA:1071
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:261537
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ...	OMIM:610168
Fontaine Progeroid Syndrome	Syndactyly, Deep palmar crease, Absent distal phalanges, Umbilical hernia, Micropenis, Short dist...	OMIM:612289
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Mowat-Wilson Syndrome	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:2152
Alström Syndrome	Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Micropenis, Sh...	ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Postaxial polydactyly, Broad first metatarsal, Dilat...	OMIM:619534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ...	ORPHA:261552
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Patent ductus arteriosus, Cyanosis	ORPHA:216694
Pmm2-Cdg	Respiratory distress, Proteinuria, Long fingers, Abnormal subcutaneous fat tissue distribution, N...	ORPHA:79318
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Plague	Acute infectious pneumonia, Abnormality of the elbow, Respiratory distress	ORPHA:707
Hereditary Mixed Polyposis Syndrome		ORPHA:157794

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 Grem1

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 Grem1.

No publications found that use IMPC mice or data for Grem1.

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
Grem1^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Grem1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Grem1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Grem1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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