Gene: Col27a1 MGI:2672118

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Gene Summary

collagen, type XXVII, alpha 1

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Col27a1em1(IMPC)Mbp HET Early adult 0.00
cleft palate Col27a1em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Col27a1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Col27a1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Col27a1em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Col27a1em1(IMPC)Mbp HOM E15.5 0.00
edema Col27a1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Col27a1em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Col27a1em1(IMPC)Mbp HOM E15.5 0.00
blind uterus Col27a1em1(IMPC)Mbp HET Early adult 0.00
increased bone mineral density Col27a1em1(IMPC)Mbp HET Early adult 3.30×10-05
abnormal spleen morphology Col27a1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Col27a1em1(IMPC)Mbp HOM E15.5 0.00
small spleen Col27a1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Col27a1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Col27a1em1(IMPC)Mbp HOM E15.5 0.00
increased bone mineral content Col27a1em1(IMPC)Mbp HET   Early adult 2.79×10-05

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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Col27a1 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.

The table below shows human diseases associated to Col27a1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Steel Syndrome
Dislocated radial head, Wide nasal bridge OMIM:615155

The table below shows human diseases predicted to be associated to Col27a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Abnormal cortical bone morphology, Increased bone mineral dens... ORPHA:2204
Achondrogenesis, Type Ib
Narrow chest, Stillbirth, Hypoplastic ilia, Short ribs, Umbilical hernia, Absent or minimally oss... OMIM:600972
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis OMIM:184800
Achondrogenesis Type 1A
Short thorax, Short nose, Narrow chest, Abnormal enchondral ossification, Femoral hernia, Recurre... ORPHA:93299
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Achondrogenesis Type 1B
Short thorax, Short nose, Abnormal enchondral ossification, Narrow chest, Femoral hernia, Umbilic... ORPHA:93298
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Narrow chest, Natal tooth, Increased susceptibility to fractures, Micrognathia, Hypoplastic verte... OMIM:224300
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... OMIM:249710
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal atresia, Omphalocele, Short distal phalanx of finger, Pulmo... OMIM:602535
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Long coccyx, Narrow chest, Abnormal enchondral ossification, ... OMIM:156530
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Micrognathia, Camptodactyly, Congenital contracture, Umbilical hernia, Wide nasal bridge, Respira... OMIM:616266
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Rickets of the lower limbs, Sp... ORPHA:882
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Swollen lip, Facial edema OMIM:619363
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Respiratory distress, Micrognathia, Short sternum, Aplasia of the ulna,... OMIM:266910
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal ... ORPHA:2631
Jawad Syndrome
4-5 toe syndactyly, Hallux valgus, Prominent nose, Short middle phalanx of the 5th finger, Retrog... OMIM:251255
Seckel Syndrome 4
Steep acetabular roof, Underdeveloped nasal alae, Intrauterine growth retardation, 11 pairs of ri... OMIM:613676
Fetal Minoxidil Syndrome
Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia, Depressed nasal bridge ORPHA:1918
Spondylometaphyseal Dysplasia, X-Linked
Anteverted nares, Pectus carinatum, Short finger, Sclerosis of skull base, Respiratory insufficie... OMIM:313420
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Narrow chest, Respiratory insufficiency, Distal arthrogryposi... OMIM:208081
Delayed eruption of teeth, Short nose, Narrow chest, Square pelvis bone, Respiratory distress, Jo... ORPHA:166272
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinur... ORPHA:100024
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Short thorax, Short nose, Abnormal enchondral ossification, Narrow chest, Umbilical hernia, Ingui... ORPHA:932
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Res... OMIM:618011
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Long thorax, Abnormal shoulder morphology, Micrognathia, Brachydactyly, Hernia of the ... ORPHA:1277
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Arthrogryposis multiplex congenita, Respiratory insufficiency ... OMIM:611890
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Short nose, Respiratory distress, Respiratory failure, Intrauterine ... ORPHA:1832
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Increased bone mineral density OMIM:265880
Axial Osteomalacia
Osteomalacia, Polycystic liver disease, Renal cyst, Increased bone mineral density OMIM:109130
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, Flexion cont... OMIM:618291
Myasthenic Syndrome, Congenital, 19
Distal joint laxity, Pectus carinatum, Respiratory insufficiency, Recurrent lower respiratory tra... OMIM:616720
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy... ORPHA:37748
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Bell-shaped thorax, Short long bone, Coxa vara, Genu varum, Rounded epiphys... OMIM:611702
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Respiratory distress, Narrow chest, Thoracic hyp... OMIM:617895
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Pectus excavatum, ... OMIM:614399
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Radial deviation of finger, Clinodactyly, Inguinal hernia, 11 pairs of ribs, Talipe... OMIM:309610
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Lethal Recessive Chondrodysplasia
Respiratory distress, Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, Limb und... ORPHA:1423
Tarp Syndrome
Hypoplasia of the radius, Pectus excavatum, Short sternum, Postaxial polydactyly, Wide nasal brid... OMIM:311900
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... ORPHA:1801
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Finger clinodactyly, Inguinal hernia, Bilateral talipes equinovarus, Retrognathia, ... ORPHA:2958
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Kniest Dysplasia
Respiratory distress, Hypoplastic pelvis, Flattened, squared-off epiphyses of tubular bones, Dumb... OMIM:156550
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... ORPHA:2302
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respira... OMIM:228940
Scarf Syndrome
Enamel hypoplasia, Diastasis recti, Craniosynostosis, Pectus carinatum, Joint hyperflexibility, S... ORPHA:3134
Arthrogryposis, Mental Retardation, And Seizures
Camptodactyly of finger, Arthrogryposis multiplex congenita, Microretrognathia, Flexion contractu... OMIM:615553
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Scarf Syndrome
Enamel hypoplasia, Diastasis recti, Lambdoidal craniosynostosis, Pectus carinatum, Short sternum,... OMIM:312830
Isolated Osteopoikilosis
Ectopic kidney, Generalized osteosclerosis ORPHA:166119
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Camptodactyly, Omphalocele, Long toe, Wrist flexion contracture, Depressed nasal br... ORPHA:254528
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death in infancy, ... OMIM:184260
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteverted nares, Joint hyperflexibility, Umbilical hernia, Respiratory ... ORPHA:1488
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Short nose, Narrow chest, Anteverted nares, Short ribs, Limb undergrowth, Co... OMIM:618961
Arthrochalasia Ehlers-Danlos Syndrome
Hip dysplasia, Joint hyperflexibility, Scarring, Avascular necrosis of the capital femoral epiphy... ORPHA:1899
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, P... OMIM:258850
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Limited elbow extension, Aplasia/hypoplasia of the extremities, Malar flattening, Short long bone... OMIM:146000
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of tibia morphology, Abnormality of femur morphology, Bulbous nose, Syno... ORPHA:2496
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Temporomandibular joint ankylosis, Plantar flexion contractures, Ep... ORPHA:2872
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... OMIM:611490
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Short nose, Pectus carinatum, Bowing of ... ORPHA:171839
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Cellulitis, Atrophic scars, Umbilical hernia, Shoulder disloca... OMIM:618000
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Umbilical hernia, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndact... OMIM:600325
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Joint laxity, Short phalanx of finger, Wide anterior fontanel, Recurrent mandibular subluxations,... OMIM:225410
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Meta... OMIM:250460
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Short nose, Anteverted nares, Mesomelia, Umbilical hernia, Short distal phalanx of f... OMIM:616331
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Nar... ORPHA:1263
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Cleft palate OMIM:616570
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Talipes equinovarus, Arthrogryposis multiplex congenita, Scapular winging, Micrognathia, Camptoda... OMIM:617468
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Joint laxity, Hypoplasia of the capital femoral epiphysis OMIM:600561
Craniofacial Dyssynostosis
Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Umbilical hernia, Wide nasal bridge, C... ORPHA:1516
Ulbright-Hodes Syndrome
Phocomelia, Abnormality of the ribs, Micrognathia, Depressed nasal bridge, Hypoplasia of the radi... ORPHA:3404
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Mandibular os... OMIM:166600
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Aminoaciduria, Splenomegaly ORPHA:417
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Narrow chest, Broad t... OMIM:304120
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Joint hyperflexibility, Umbilical hernia, Sandal gap, Arachnodactyly, Anteverted nar... ORPHA:1035
Momo Syndrome
Delayed eruption of teeth, Abnormal bone ossification, Taurodontia, Short sternum, Large hands, C... ORPHA:2563
Cornelia De Lange Syndrome 1
Choanal atresia, Pneumonia, Congenital diaphragmatic hernia, Phocomelia, Abnormal umbilicus morph... OMIM:122470
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Adams-Oliver Syndrome 4
Umbilical hernia, Short toe OMIM:615297
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Momo Syndrome
Delayed eruption of teeth, Taurodontia, Short sternum, Large hands, Wide nasal bridge, Dental mal... OMIM:157980
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Narrow chest, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Br... OMIM:611263
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Joint hyperflexibility, Choanal atresia, Wide nasal bridge, Respir... ORPHA:2759
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormality of the abdominal wall, Thoracic hypoplasia, Bowing of the long bones, Wide nasal brid... OMIM:224410
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Aarskog-Scott Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Finger syndactyly, Joint hyperflexibility, Pe... ORPHA:915
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Hypoplastic cervical vertebrae, Hitchhiker t... OMIM:222600
Imagawa-Matsumoto Syndrome
Camptodactyly, Mandibular prognathia, Large hands, Umbilical hernia, Clinodactyly OMIM:618786
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Short thorax, Amelogenesis imperfecta, Carious teeth, Microretrognathia, Thoracic hy... OMIM:618363
Diastrophic Dwarfism
Respiratory insufficiency, Abnormality of the metacarpal bones, Increased bone mineral density, J... ORPHA:628
Acrocapitofemoral Dysplasia
Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Pectus excavatum, Short palm, Co... ORPHA:63446
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Kaposiform Lymphangiomatosis
Osteolysis, Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel mo... ORPHA:464329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Short Stature-Obesity Syndrome
Micrognathia, Limb undergrowth, Brachydactyly, Narrow nose, Clinodactyly of the 5th finger, Promi... OMIM:269870
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced b... ORPHA:2785
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short thorax, Carious teeth, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... OMIM:617102
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Splenomegaly ORPHA:172
2q33.1 deletion syndrome
High palate, Short stature, Cleft palate DECIPHER:51
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Short nose, Narrow chest, Anteverted nares, Umbilical hernia, Wide nas... ORPHA:363705
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Mandibular prognathia, Umbilical ... ORPHA:137834
Tarp Syndrome
Rocker bottom foot, Apnea, Hand polydactyly, Finger syndactyly, Pectus excavatum, Short sternum, ... ORPHA:2886
Metatropic Dysplasia
Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, A... ORPHA:2635
Arthrogryposis, Distal, Type 1A
Arthrogryposis multiplex congenita, Congenital hip dislocation, Stiff shoulders, Camptodactyly, A... OMIM:108120
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Anomalous pulmonary venous return, Finger syndactyly, Rib ... ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic... OMIM:608728
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Hypopla... OMIM:151210
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Hematuria, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepa... ORPHA:77259
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Retro... OMIM:618393
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Delayed epiphyseal ... OMIM:601561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Abnormality of the abdominal wall, Joint laxity, Metaphyseal irregularity, ... OMIM:602557
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Microretrognathia, Umbilical hernia, Wide nasal bridge,... ORPHA:324313
Turnpenny-Fry Syndrome
Obstructive sleep apnea, Thoracic kyphoscoliosis, Narrow chest, Overlapping toe, Pectus carinatum... OMIM:618371
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Pectus carinatum, Flattened proximal radial epiphyses, Short long bone, Flat a... OMIM:271530
Thoracomelic Dysplasia
Genu valgum, Narrow chest, Joint hyperflexibility, Bell-shaped thorax, Short ribs, Limb undergrow... ORPHA:1803
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, ... OMIM:615633
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79301
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, L... ORPHA:15
Catel-Manzke Syndrome
Joint laxity, Pectus carinatum, Micrognathia, Camptodactyly, Pectus excavatum, Ulnar deviation of... OMIM:616145
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis morphology, Joint hyperflexibil... ORPHA:1842
Mental Retardation, Autosomal Recessive 41
Mandibular prognathia, Clinodactyly of the 5th finger, Retrognathia, Broad nasal tip OMIM:615637
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Joint hypermobility, Wide anterior fontanel, N... OMIM:618853
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Short 5th meta... ORPHA:1350
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Monosomy 5P
Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Wide nasal bri... ORPHA:281
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Rubinstein-Taybi Syndrome 2
Carious teeth, Broad thumb, Broad hallux, Syndactyly, Retrognathia, Dental malocclusion, Microgna... OMIM:613684
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Flexion contracture, Hyperextensibility at wrists, Increased laxity of fingers, Lon... ORPHA:75840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Abnormality of the ribs, Genu valgum, Upper limb undergrowth, Short metatarsal, Hyp... ORPHA:93351
Fibrodysplasia Ossificans Progressiva
Short hallux, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossification in musc... OMIM:135100
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Bulbous nose, Thoracic kyphosis, Pectus excavatum, Short sternum, Pos... ORPHA:2752
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Pectus excavatum, 2-3 toe syndactyly, Mandibular pr... ORPHA:284180
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Short nose, Thoracic hypoplasia, Limb undergrowth, Short long bone, Brachydactyly ORPHA:221054
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Kagami-Ogata Syndrome
Diastasis recti, Anteverted nares, Hypoplasia of the maxilla, Flexion contracture, Bell-shaped th... OMIM:608149
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Hypophosphatemic ri... OMIM:276700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Underdeveloped nasal alae, Flexion contracture, Omphalocele, Short long b... OMIM:263210
Weaver Syndrome
Camptodactyly of finger, Broad thumb, Finger syndactyly, Joint hyperflexibility, Large hands, San... ORPHA:3447
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epiphyses of the elbow, Frag... ORPHA:166002
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hypoplastic p... OMIM:308050
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Respiratory failure OMIM:301021
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na... OMIM:210720
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal death, Short thumb... OMIM:227270
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Camptodactyly of finger, Talipes equinovarus, Camptodactyly of toe, Adducted ... OMIM:619110
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Pleural effusion, Micromelia, Respirator... ORPHA:3015
Platyspondylic Dysplasia, Torrance Type
Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bones, M... ORPHA:85166
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, Dep... OMIM:228520
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Abnor... ORPHA:95717
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Umbilical herni... OMIM:617952
Roifman-Chitayat Syndrome
Short metatarsal, Cone-shaped epiphysis, Pneumonia, Umbilical hernia, Wide nasal bridge, Depresse... OMIM:613328
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus ad... ORPHA:56304
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postaxial hand polydactyly, Broad ribs, Anteverted nares, Abnorm... OMIM:269150
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Narrow chest, Underdeveloped ... OMIM:180870
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:616081
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Thrombocytopenia,... OMIM:259710
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia OMIM:618107
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Weaver Syndrome
Broad thumb, Camptodactyly, Mandibular prognathia, Metatarsus adductus, Prominent fingertip pads,... OMIM:277590
Cantu Syndrome
Short hallux, Osteoporosis, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic ram... OMIM:239850
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Wide nasal brid... ORPHA:1240
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Congenital hepatic fibrosis, Stage 5 chronic kidney dis... ORPHA:3156
Sialidosis Type 2
Osteoporosis, Short thorax, Dyspnea, Pectus carinatum, Flexion contracture, Umbilical hernia, Ing... ORPHA:87876
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Omphalocele,... OMIM:215140
Ehlers-Danlos Syndrome, Periodontal Type, 2
Joint hypermobility, Inguinal hernia, Umbilical hernia OMIM:617174
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Split hand, Wide nasal bridge, Neonatal respiratory distress, Respira... ORPHA:168486
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Flexion co... OMIM:617303
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Thoracic hypoplasia, Pectus excavatum, Limb undergrowth, Bowing of the legs ORPHA:156728
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplast... OMIM:300863
Thoracic Dysplasia-Hydrocephalus Syndrome
Narrow chest, Limb undergrowth, Short ribs, Respiratory insufficiency, Respiratory failure, Thora... OMIM:273730
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bone, Coxa vara, Genu varum,... OMIM:618728
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Death in childhood, Respira... OMIM:619334
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cuppe... OMIM:187600
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Umbilical hernia, Clinodactyly of the 5th finger, Severe intraut... ORPHA:231144
Thanatophoric Dysplasia, Type Ii
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... OMIM:187601
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus adductus, ... OMIM:201000
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polycys... ORPHA:730
Glycogen Storage Disease Ib
Osteoporosis, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Neut... OMIM:232220
Glycogen Storage Disease Ia
Osteoporosis, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hepa... OMIM:232200
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Diastasis recti, Short nose, Wide anterior fontanel, Thoracic h... OMIM:616638
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Talipes equinovarus, Congenital hip dislocation, Pectus carinatum, Flexion contract... OMIM:255800
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Pectus carinatum, Umbilical hernia, In... OMIM:614856
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Micrognathia, Depresse... OMIM:268310
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepa... OMIM:200995
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Anteverted nares, Subglottic stenosis, Pneumonia, Limb underg... OMIM:617809
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint hypermobility, Craniosynostosis, Joint laxity, Camptodactyly, Metatarsus adductus, Microgna... OMIM:182212
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Progeroid Syndrome, Petty Type
Shagreen patch, Wide anterior fontanel, Mandibular prognathia, Lipoatrophy, Umbilical hernia, Sho... ORPHA:2963
Arthrogryposis Multiplex Congenita 5
Arthrogryposis multiplex congenita, Camptodactyly, Death in infancy, Limitation of knee mobility,... OMIM:618947
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
H Syndrome
Osteolysis, Azoospermia, Enlarged kidney, Microcytic anemia, Camptodactyly, Recurrent fractures, ... ORPHA:168569
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Flat acetabular roof, Pathologic fracture,... OMIM:252500
Acromicric Dysplasia
Short phalanx of finger, Bulbous nose, Cone-shaped epiphysis, Short foot, Fifth metacarpal with u... OMIM:102370
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Short nose, Finger syndactyly, Split hand, Intrauterine growth retardation, Mal... ORPHA:2145
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Short nos... OMIM:200600
Shprintzen-Goldberg Syndrome
Craniosynostosis, Narrow chest, Joint stiffness, Abnormality of the metaphysis, Micrognathia, Hyp... ORPHA:2462
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Cutis Laxa, Autosomal Recessive, Type Ic
Joint laxity, Micrognathia, Emphysema, Tracheomalacia, Sandal gap, Wide nasal bridge, Laryngomala... OMIM:613177
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Multiple joint contractures, Respiratory failure, Abnormality of conne... ORPHA:370968
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Camptodactyly of finger, Broad ribs, Narrow chest, Anteverted nares, Wide anterior fontanel, Hypo... ORPHA:2021
Abnormality of femur morphology, Sleep apnea, Joint hyperflexibility, Bowing of the long bones, G... ORPHA:429
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Emphysema, Pectus excavatum, Umbilical hernia, Inguinal hernia, Congenital diaphrag... OMIM:219100
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Micromelia, Death in infancy, Short ribs, Pulmonary hypop... OMIM:241800
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Abnormality of femoral epiphysis, Inguinal hernia, Epiphyseal dysplasia, Umbilical hernia OMIM:601351
6Q16 Microdeletion Syndrome
Bulbous nose, Abnormal thorax morphology, Tapered finger, Retrognathia, Micrognathia, Anteverted ... ORPHA:171829
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Abnormality of epiphysis morphology, Absent ossification of capital femoral... ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Intellectual Disability, Buenos-Aires Type
Pectus carinatum, Mandibular prognathia, Umbilical hernia, Wide nasal bridge, Reduced bone minera... ORPHA:3079
Nemaline Myopathy 8
Respiratory failure, Flexion contracture, Death in infancy OMIM:615348
Myopathy, Centronuclear, 5
Hip contracture, Retrognathia, Micrognathia, Respiratory insufficiency OMIM:615959
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Absent nasal bridge, Bronchospasm, Rhizomelia, Short finger, Irregular... OMIM:612813
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Hepatomegaly, Splenomegaly, Abnormal mast... ORPHA:98848
Greenberg Dysplasia
Abnormal bone ossification, Narrow chest, Rhizomelia, Anterior rib punctate calcifications, Abnor... ORPHA:1426
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Narrow chest, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypop... ORPHA:1865
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses of the phal... OMIM:250215
Abnormality of the ribs, Craniosynostosis, Narrow chest, Emphysema, Bowing of the long bones, Rec... ORPHA:436
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormal cartilage matrix, Wide anterior fontanel, Narrow chest, Abnormalit... ORPHA:2347
Ck Syndrome
Joint hypermobility, Malar flattening, Abnormal digit morphology, Retrognathia, Micrognathia, Pro... OMIM:300831
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Bulbous nose, 2-3 toe syndactyl... OMIM:616809
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Joint hyperflexibility, Down-sloping shoulders, Malar flattening, Retrognathia, Cl... ORPHA:1390
Mucopolysaccharidosis, Type Vii
Thoracolumbar kyphosis, Genu valgum, Recurrent upper respiratory tract infections, Pectus carinat... OMIM:253220
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, Micrognathia, Sh... OMIM:616897
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hyperflexibility, Umbilical hernia, Shoulder dislocation, Adducted thumb, Arachnodactyly ORPHA:2181
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Pectus excavatum, Limb undergrowth, Brachydactyly, Microm... OMIM:122900
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:613869
Acromesomelic Dysplasia, Maroteaux Type
Joint hyperflexibility, Sprengel anomaly, Bowing of the long bones, Joint stiffness, Acromesomeli... ORPHA:40
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Carious teeth, Dyspnea, Anteverted nares, Micrognathia, Camptodactyly, T... OMIM:272430
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Cigarette-paper scars, Pectus excavatum, Recurrent sinusitis, Umbilical hern... OMIM:130000
Intellectual Disability, Wolff Type
Camptodactyly of finger, Broad thumb, Bulbous nose, Microretrognathia, Large hands, Short distal ... ORPHA:3080
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Bulbous nose, Broad nasal tip, Retrognathia, Short palm OMIM:612947
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Short sternum, Malar flattening, Intrauterine growth retardation, Micrognathia, Antev... OMIM:257300
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long b... ORPHA:440354
Nephroblastomatosis, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lo... OMIM:608022
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Laryngeal cleft OMIM:615706
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Enlarged thorax, Abnormal pleura morphology, Umbilical hernia, Metatarsus a... ORPHA:584
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Short thorax, Narrow chest, Joint hyperflexibility, Mic... ORPHA:2655
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Wide anterior fontanel, Umbilical hernia, Depressed nasal bridge OMIM:275100
Microphthalmia, Syndromic 12
Broad nasal tip, Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Retrog... OMIM:615524
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly OMIM:608540
Short Stature, Brussels Type
Microretrognathia, Calcification of cartilage, Narrow chest, Delayed epiphyseal ossification ORPHA:2867
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Reduced bone minera... ORPHA:848
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Laryngotracheomalacia, Abnormal respiratory system physiology, Aplasia/hypoplasia ... ORPHA:93346
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Spinal dysraphism, Mandi... ORPHA:96334
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormality of the metaphysis, Limb undergrowth, Respiratory failure, Narrow chest ORPHA:1861
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Short nose, Rhizomelia, Micromelia, Abnormality of t... ORPHA:93329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Conical incisor, Pleural effusion, Camptodactyly, Pectus excavatum, Hy... OMIM:235510
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Increased connective tissue, Flexion contracture, Abnormal th... ORPHA:171430
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Calcification of cartilage, Exertional dyspnea... ORPHA:3348
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Hip dislocation, Arachnodactyly,... ORPHA:171719
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Glycine Encephalopathy With Normal Serum Glycine
Talipes equinovarus, Apnea, Arthrogryposis multiplex congenita, Joint laxity, Overlapping toe, Fl... OMIM:617301
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Abnormality of epiphys... ORPHA:93352
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias, Renal... ORPHA:1046
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Limb undergrowth, Spina bi... ORPHA:177
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Respiratory failure, Intrauterine ... OMIM:615330
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Death in infancy, Respiratory insufficiency, Increased bone m... ORPHA:800
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Osteoarthritis, Micromelia, Abnormality of epiphysis morphology ORPHA:93283
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Autosomal Dominant Cutis Laxa
Joint hyperflexibility, Emphysema, Umbilical hernia, Inguinal hernia, Hernia ORPHA:90348
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Short nose, Narrow chest, Micromelia, Metaphyseal cupping, Bell-shaped thora... OMIM:613320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic calcification, Hydroneph... OMIM:608836
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Abnormal sternum ... ORPHA:2990
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short 4th finger,... ORPHA:2756
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification, Flared il... OMIM:271665
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia, Increased bone mineral density ORPHA:1237
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Coffin-Siris Syndrome 1
Joint laxity, Choanal atresia, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes... OMIM:135900
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Retrognathia, Arthrogryposis multiplex congenita OMIM:619072
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Enlarged kidney, Recurrent fractures, Membranoprolif... ORPHA:251004
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, Mandibular prognathia, 2-3 toe syndactyly, Joint contracture of the 5th finger, Umb... OMIM:618914
2Q37 Microdeletion Syndrome
Toe syndactyly, Underdeveloped nasal alae, Finger syndactyly, Anteverted nares, Joint hyperflexib... ORPHA:1001
Hurler-Scheie Syndrome
Umbilical hernia, Joint stiffness, Tracheal stenosis, Pulmonary arterial hypertension, Micrognath... OMIM:607015
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Clinodactyly, Umbilical hernia OMIM:618164
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Wide nasal bridge, Clinodactyly, Respiratory failure, Intraute... OMIM:618804
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Narrow chest, Phalangeal dislocation, Broad first metatarsal, San... OMIM:251450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Joint hyperflexibility, Mandibular prognathia, Umbilical hernia, Wide nasal bridge, ... ORPHA:1778
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Polydactyly, Short 5th metaca... OMIM:169400
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Short thorax, Limited elbow extension, Recurrent upper respir... ORPHA:239
Gapo Syndrome
Abnormal clavicle morphology, Delayed eruption of teeth, Anteverted nares, Joint hyperflexibility... ORPHA:2067
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Hiatus hernia, Rickets, Joint hyperflexibility, Scarring, Femoral he... ORPHA:1901
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal de... OMIM:245650
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Broad toe, Delayed ossification of c... OMIM:609616
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Apla... ORPHA:3429
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Abnormal thorax morphology, Respiratory ... ORPHA:171433
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Hurler Syndrome
Anteverted nares, Flared iliac wing, Hypoplasia of the odontoid process, Flexion contracture, Rec... OMIM:607014
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Down-sloping shoulders, Lipodystrophy, Short clavicles, Osteopenia, Retrognathia OMIM:212112
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Joint laxity, Anteverted nares, Umbilical hernia, Tracheobronchomalacia, Recurr... ORPHA:500159
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Arthrogryposis multiplex congenita, Camptodactyly of ... OMIM:265000
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Cornelia De Lange Syndrome 5
Limited elbow extension, Toe syndactyly, Broad nasal tip, Anteverted nares, Micrognathia, Small h... OMIM:300882
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... ORPHA:276280
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Depressed nasal bridge, Hypopla... OMIM:114290
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Abnormal thorax morphology, Pneumonia, Atelectasis, Respiratory fail... ORPHA:70587
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Death in infancy, Respiratory failure, Intrauterine... ORPHA:1194
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Abnormalit... ORPHA:296
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Anteverted n... ORPHA:1427
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Distal renal tubular acidosis, Cranial hyperostosis,... OMIM:259730
Vascular Malformation, Primary Intraosseous
Diastasis recti, Supraumbilical raphe, Umbilical hernia OMIM:606893
Melnick-Needles Syndrome
Abnormality of the ribs, Short thorax, Delayed eruption of teeth, Narrow chest, Craniofacial hype... ORPHA:2484
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Micromelia ORPHA:93316
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... OMIM:177170
Arterial Tortuosity Syndrome
Hiatus hernia, Joint laxity, Pectus carinatum, Micrognathia, Pectus excavatum, Flexion contractur... OMIM:208050
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
3M Syndrome
Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Bulbous nose, Hor... ORPHA:2616
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Arthritis OMIM:602390
Meier-Gorlin Syndrome 6
Hip dysplasia, Short nose, Underdeveloped nasal alae, Microretrognathia, Short middle phalanx of ... OMIM:616835
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Split hand, Omphalocele, Aplasia/Hypoplasia of the lungs, Shor... ORPHA:2092
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Schaaf-Yang Syndrome
Rocker bottom foot, Arthrogryposis multiplex congenita, Sleep apnea, Camptodactyly, Flexion contr... OMIM:615547
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Farber Lipogranulomatosis
Hepatomegaly, Arthritis, Lipogranulomatosis, Splenomegaly OMIM:228000
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia, Depressed nasal bridge ORPHA:85173
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Joint contracture of the h... OMIM:300280
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Wide nasal bridge... ORPHA:1292
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Osteoporosis, Broad ribs, Narrow chest, Finger syndactyly, Broad hallux phalanx, Um... ORPHA:1517
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470