Gene: Adamtsl2 MGI:1925044

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ADAMTS-like 2

Synonyms:

stb, A930008K15Rik

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 Adamtsl2 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 Adamtsl2 (2 diseases)
Human diseases predicted to be associated with Adamtsl2 (935 diseases)

The table below shows human diseases associated to Adamtsl2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Geleophysic Dysplasia 1		Osteopenia, Cone-shaped epiphysis, Short metacarpals with rounded proximal ends, Camptodactyly of...	OMIM:231050
Dermatosparaxis Ehlers-Danlos Syndrome		Severe short stature, Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femora...	ORPHA:1901

The table below shows human diseases predicted to be associated to Adamtsl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo...	OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Immunodeficiency 95	Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio...	OMIM:619773
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Respiratory failu...	ORPHA:70587
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Autism, Susceptibility To, 20	Reduced social reciprocity	OMIM:618830
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Apnea, Death in infancy	OMIM:610992
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ...	ORPHA:174
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne...	ORPHA:2032
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia	ORPHA:141152
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Laron Syndrome	Severe short stature, Delayed menarche, Decreased serum insulin-like growth factor 1, Limb underg...	OMIM:262500
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ...	ORPHA:166002
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Succinic Acidemia	Respiratory distress	OMIM:600335
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia, Apnea, Neonatal death	OMIM:615228
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth	OMIM:619751
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho...	ORPHA:50251
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Langer Mesomelic Dysplasia	Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Dispr...	ORPHA:2632
Severe Acute Respiratory Syndrome	Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia	ORPHA:140896
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormal epiphysis morphology, Growth delay, Epiphyseal stippling, Microcephaly, Limb...	ORPHA:177
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Microcephaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis	ORPHA:1303
Image Syndrome	Micromelia, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Adrenal hypoplasia, Me...	ORPHA:85173
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Osseous Heteroplasia, Progressive	Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Dis...	OMIM:222600
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Odontochondrodysplasia 1	Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Macrocephaly, Small epiphyses, C...	OMIM:184260
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Avascular...	ORPHA:93308
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Irregular epiphyses of the metaca...	OMIM:614078
Ollier Disease	Precocious puberty, Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Abnorma...	ORPHA:296
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Pleural effusion, Cyanosis	ORPHA:2414
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Postnatal growth retardation, Short midd...	OMIM:614326
Ruvalcaba Syndrome	Small hand, Micromelia, Cryptorchidism, Microcephaly, Delayed puberty, Short foot, Short metatars...	OMIM:180870
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Abnormal epiphysis morphology, Hypo...	ORPHA:628
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia	ORPHA:1302
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Aplasia/hypoplasia of...	OMIM:146000
Breath-Holding Spells	Cyanosis	OMIM:607578
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Childho...	ORPHA:429
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib...	OMIM:178500
Orthostatic Hypotension 1	Retrograde ejaculation	OMIM:223360
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration	ORPHA:77260
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Small hand, Clinodactyly, Postnatal growth retardation, Obesity, Micrognathia...	ORPHA:254525
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Respiratory failure, Tachypnea, Pneumothorax, ...	ORPHA:36238
Laryngotracheoesophageal Cleft	Dyspnea, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Di...	ORPHA:93351
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin...	OMIM:609441
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Postnata...	OMIM:614732
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira...	ORPHA:2257
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Achondroplasia	Hip joint hypermobility, Rhizomelia, Disproportionate short stature, Obesity, Trident hand, Narro...	ORPHA:15
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening of limbs, ...	OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Neonatal short-limb short stature, Radial bowi...	OMIM:151210
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Acrocephalopolydactyly	Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Hip contracture, 2-3 toe syndactyly, Limb undergrowth, Adducted thumb...	OMIM:616809
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib...	OMIM:600081
Acromicric Dysplasia	Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, ...	OMIM:102370
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Bowing of t...	ORPHA:2631
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Uterus didelphys, Short humerus, Microcephaly, Hypothyroidism, Aplasia/Hypoplasia of ...	ORPHA:2491
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, A...	OMIM:619489
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Irregular epiphyses, Sm...	OMIM:608728
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr...	ORPHA:60032
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Limb undergrowth, Disproportionate short-limb short stature, Bowing of the legs	ORPHA:156728
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Genu valgum, S...	ORPHA:1803
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Acrodysostosis	Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal...	ORPHA:950
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Macrocep...	OMIM:601356
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th...	OMIM:609616
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Micro...	ORPHA:2635
Laryngomalacia	Respiratory distress	OMIM:150280
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:98913
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Cryptorchidism, Abnormal morphol...	ORPHA:93329
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia, Proportionate short stature	ORPHA:93283
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:277440
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis	ORPHA:137914
Chondrodysplasia-Difference Of Sex Development Syndrome	Severe short stature, Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossific...	ORPHA:1422
Dopamine Beta-Hydroxylase Deficiency	Retrograde ejaculation	ORPHA:230
Temple Syndrome	Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Postnatal ...	ORPHA:254516
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory failure	OMIM:614399
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ...	OMIM:606763
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Macrocephaly, Advanced tarsal os...	OMIM:269250
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin...	OMIM:616414
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia	ORPHA:747
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Kyphomelic Dysplasia	Disproportionate short stature, Micromelia, Micrognathia, Bowing of the long bones, Missing ribs,...	ORPHA:1801
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Disproportionate short-trunk ...	OMIM:271530
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Disproportionate short stature, Dumbbell-shaped femur, Sandal gap, Flared f...	ORPHA:1427
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Disproportionate short stature, Small epiphyses, Genu valgum, Obesity, Microgn...	OMIM:618363
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro...	OMIM:616897
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati...	ORPHA:60025
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H...	ORPHA:79127
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red...	ORPHA:1508
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Mesomelic/r...	ORPHA:2347
Avian Influenza	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Respiratory ...	ORPHA:454836
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Microg...	ORPHA:1865
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Primary amenorrhea, Microcephaly, Severe postnatal growth retardation, Limb undergrowth,...	ORPHA:319675
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Anterior hypopituitarism, Macrocephaly, M...	OMIM:241800
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Mesomelic short statur...	OMIM:249700
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Radial devia...	OMIM:211750
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert...	OMIM:610978
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona...	ORPHA:168549
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia	ORPHA:70588
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Short palm, Coxa vara	ORPHA:168555
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Decreased skull ossification, Testicular atrophy, Clinodactyly of the 5th...	OMIM:601163
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Micr...	ORPHA:1842
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Recurrent pneumonia, Respiratory failure	ORPHA:254875
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Fragile skin, Neonatal death	OMIM:612138
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Igg4-Related Retroperitoneal Fibrosis	Impotence, Retrograde ejaculation	ORPHA:49041
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Brachydactyly, Type B1	Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type B brachydactyly, Micropenis, S...	OMIM:113000
Achondrogenesis Type 1B	Severe short stature, Disproportionate short stature, Abnormal enchondral ossification, Micromeli...	ORPHA:93298
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Severe short stature, Ulnar deviation of finger, Broad thumb, Micromelia, Hypoplasia o...	ORPHA:2249
Familial Peripheral Male-Limited Precocious Puberty	Oligozoospermia, Male infertility	ORPHA:3000
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol...	ORPHA:1597
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Postnatal growth retardation, Intrauterine growth retardation, Decreased skull ossifi...	ORPHA:93324
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation, Cryptorch...	ORPHA:2772
Nievergelt Syndrome	Mesomelic short stature, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus addu...	OMIM:163400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor...	ORPHA:93352
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Broad long bon...	OMIM:166210
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Micromelia, Bowing of the long bones, Short palm, Shor...	ORPHA:166272
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H...	ORPHA:2256
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Postnatal growth retardation, Intrau...	ORPHA:397590
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
Malaria	Respiratory distress	ORPHA:673
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss...	OMIM:215045
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Failure to thrive, Microcephaly, Limb undergrowth, Brachydactyly, ...	ORPHA:2107
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M...	OMIM:602557
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Leri-Weill Dyschondrosteosis	Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Disproportion...	OMIM:127300
Silver-Russell Syndrome 3	Small hand, Unilateral cryptorchidism, Postnatal growth retardation, Decreased body weight, Ambig...	OMIM:616489
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma...	ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Intrauterine growth retardation, Patellar aplasia, Radioul...	OMIM:617604
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Growth delay, Patella...	ORPHA:221008
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ...	OMIM:615777
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration	OMIM:620011
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Relative macrocephaly, Short first metatarsal, Postnatal growth retardation...	OMIM:619135
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes equinovarus, Aplasia/Hypopl...	OMIM:108720
Aarskog-Scott Syndrome	Short 5th finger, Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid proc...	OMIM:305400
Achondrogenesis Type 1A	Severe short stature, Abnormal enchondral ossification, Micromelia, Micrognathia, Macrocephaly, S...	ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia, Death in childhood, Death in infancy, Neonatal death	OMIM:614096
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phala...	OMIM:166250
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure	ORPHA:2759
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Eleva...	ORPHA:289157
Pneumocystosis	Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, Exertional dyspnea, Acute i...	ORPHA:723
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Decreased calvarial ossification, Bowing of the long b...	OMIM:616229
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Disproportionate short-limb short stature, Micromelia, Micrognathia, Crypto...	OMIM:224410
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Small epiphyses, Adducted thumb, Short long bone, Short stature, ...	OMIM:620269
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Congenital hip dislocation, Shoulder flexion contracture, ...	OMIM:255800
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Broad phalanx, Bilateral talipes equin...	ORPHA:56304
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-tru...	ORPHA:239
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Arthralgia of the hip, Osteoarthritis of the distal interph...	ORPHA:93284
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo...	OMIM:612387
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Death in infancy, Neonatal death	OMIM:300219
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia...	ORPHA:2634
Atelosteogenesis Type I	Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, M...	ORPHA:1190
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Lethal short-l...	OMIM:187601
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm...	ORPHA:93316
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Disproportionate short-limb short...	OMIM:250420
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Neonatal short-limb short stature, Micromelia, Broad long bones, Micrognath...	OMIM:224400
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Dumbbel...	ORPHA:485
Thanatophoric Dysplasia	Abnormal ilium morphology, Disproportionate short-limb short stature, Micromelia, Macrocephaly, I...	ORPHA:2655
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disproportionate short...	ORPHA:85166
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Severe short...	ORPHA:968
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death	OMIM:301021
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Respiratory failure, Death in infancy	OMIM:614299
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Hypoplasti...	OMIM:156550
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphyseal widening, ...	OMIM:612813
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius	ORPHA:2252
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Disproportionate short-limb short stature, Radial bowing, Short ...	OMIM:618019
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Obesity, Genu valgum, Arachnodactyly, Short stature	ORPHA:1035
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia, Respiratory failure, Anomalous pulmonary venous return	ORPHA:555874
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Recurrent ...	OMIM:618426
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation	OMIM:614370
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Bifid scr...	ORPHA:1784
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema	ORPHA:2038
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Macrocephaly, Femoral bowing, Short ri...	OMIM:615503
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Cryptorchidism...	OMIM:611209
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Microg...	ORPHA:93346
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease...	OMIM:608747
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mesomelia-Synostoses Syndrome	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Gen...	ORPHA:2496
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Jaundice, Respiratory failure	OMIM:250940
3M Syndrome	Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Micromelia, Intra...	ORPHA:2616
Achondrogenesis, Type Ib	Hypoplastic ilia, Neonatal short-limb short stature, Micromelia, Absent or minimally ossified ver...	OMIM:600972
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Death in infancy, Neonatal death	OMIM:619334
ERI1-related disease	Osteopenia, Small for gestational age, Failure to thrive, Slender metacarpals, Oligodactyly, Intr...	OMIM:608739
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Osteopenia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd f...	OMIM:620663
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Femoral bowing, Bowing of the lo...	ORPHA:1860
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Short clavicles, Microcephaly, Short ...	ORPHA:370930
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Brachydactyly, Spli...	ORPHA:2145
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Neonatal death	OMIM:601612
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Micromelia, Failure to thrive, Camptodactyly of finger, Osteoma...	ORPHA:2176
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Hypoplasti...	OMIM:611717
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Decreased skull ossification, Microcephaly, Narrow greater sciatic notch, Ulnar dev...	OMIM:263210
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Respiratory failure, Neonatal death	OMIM:610127
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Growth delay, Patella...	ORPHA:221016
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Ambiguous genitalia, Hypoplasia ...	OMIM:617895
Meckel Syndrome, Type 9	Talipes equinovarus, Ambiguous genitalia, Limb undergrowth	OMIM:614209
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Dysp...	ORPHA:94068
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,...	ORPHA:457395
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in childhood, Death in infancy, Neonatal death	OMIM:620265
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Fl...	OMIM:187600
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short palm, Short foot, ...	ORPHA:93357
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Abnormal blood gas level, Dyspnea, Respiratory failure, Hypoxemia	ORPHA:70578
Acromesomelic Dysplasia 4	Mesomelia, Rhizomelia, Disproportionate short stature, Radial bowing, Short toe, Short finger, Sa...	OMIM:619636
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic bone, Metaphys...	OMIM:614524
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung	ORPHA:142
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi...	ORPHA:289176
Achondrogenesis	Severe short stature, Abnormal enchondral ossification, Micromelia, Micrognathia, Macrocephaly, A...	ORPHA:932
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, R...	ORPHA:2909
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Death in infancy, Neonatal death	OMIM:617184
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq...	ORPHA:86822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:602152
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Becker Nevus Syndrome	Micromelia, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum morphology, Spina b...	ORPHA:64755
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Congenital Insensitivity To Pain With Severe Intellectual Disability	Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb undergrowth, Rocker botto...	ORPHA:453510
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Isolated Right Ventricular Hypoplasia	Dyspnea, Hypoxemia, Cyanosis	ORPHA:439
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Postnatal growt...	OMIM:223800
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Cousin Syndrome	Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the femoral head, Fibular aplasia, M...	OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Disproportionate short stature, Abnormal epiphysis morphology, Micromelia, Ab...	ORPHA:2637
Campomelic Dysplasia	Small abnormally formed scapulae, Macrocephaly, 11 pairs of ribs, Femoral bowing, Micrognathia, T...	ORPHA:140
Congenital Varicella Syndrome	Microcephaly, Intrauterine growth retardation, Micromelia	ORPHA:291
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum...	ORPHA:93333
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Immunoneurologic Disorder, X-Linked	Neonatal death	OMIM:300076
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Cr...	ORPHA:3144
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Disproportionate short-limb short stature, Fail...	OMIM:241500
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Fibular hypoplasia, Ulnar deviated club hands, Co...	OMIM:164900
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia	ORPHA:3309
Dpm1-Cdg	Sandal gap, Failure to thrive, Secondary microcephaly, Long hallux, External genital hypoplasia, ...	ORPHA:79322
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Apl...	ORPHA:2502
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Nivelon-Nivelon-Mabille Syndrome	Severe short stature, Micromelia, Microcephaly, Male pseudohermaphroditism, Brachydactyly, Short ...	OMIM:600092
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia, Neonatal death	OMIM:245650
Thanatophoric Dysplasia Type 2	Micromelia, Brachydactyly, Macrocephaly, Short stature, Abnormal metaphysis morphology	ORPHA:93274
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v...	OMIM:618870
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog...	ORPHA:85167
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Abnormal metacarpophalangeal joint ...	ORPHA:465508
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, Short foot, Growth delay...	ORPHA:238750
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Intrauterine growth retardation, Microcephaly, Hypothyroidism, Lim...	OMIM:618005
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Disproportionate short-limb short stature, Small epiphyses, Ge...	OMIM:271510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Gm1 Gangliosidosis	Abnormal epiphysis morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis morpholog...	ORPHA:354
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i...	ORPHA:2879
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Hypertrichosis Cubiti	Severe short stature, Microcephaly, Rhizomelia, Micromelia	ORPHA:2220
Glutamine Deficiency, Congenital	Erythema, Recurrent respiratory infections, Apnea, Neonatal death	OMIM:610015
Mesomelic Dysplasia, Savarirayan Type

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