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Gene: Col5a2 MGI:88458

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

collagen, type V, alpha 2

Synonyms:

1110014L14Rik

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 Col5a2 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 Col5a2 (2 diseases)
Human diseases predicted to be associated with Col5a2 (828 diseases)

The table below shows human diseases associated to Col5a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ehlers-Danlos Syndrome, Classic Type, 2		Atrophic scars, Subcutaneous spheroids, Molluscoid pseudotumors, Cigarette-paper scars	OMIM:130010
Classical Ehlers-Danlos Syndrome		Abnormal cornea morphology, Cigarette-paper scars, Atrophic scars, Striae distensae, Molluscoid p...	ORPHA:287

The table below shows human diseases predicted to be associated to Col5a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Lichen Amyloidosis	Pruritus	ORPHA:49804
Brittle Cornea Syndrome 1	Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Molluscoid pseudotumors, Spon...	OMIM:229200
Dermatitis, Atopic	Keratoconus, Cataract, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Faci...	OMIM:603165
Classic Mycosis Fungoides	Erythema, Alopecia, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Dry skin, Skin...	ORPHA:2584
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Death in infancy, Aplasia/Hypoplasia of the skin, Subcutane...	ORPHA:2028
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Papule, Skin ulcer, Pruritus	ORPHA:2337
Flynn-Aird Syndrome	Cataract, Alopecia, Skin ulcer, Dermal atrophy, Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Necrobiosis Lipoidica	Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph...	ORPHA:542592
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Dracunculiasis	Skin ulcer, Skin rash, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess formation	ORPHA:231
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Malar ...	ORPHA:90280
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair, Epidermoid cyst	ORPHA:492
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Acrogeria	Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Scoliosis, Thin skin	ORPHA:2500
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Lichen Planopilaris	Alopecia, Skin ulcer, Hypopigmented skin patches, Pterygium, Dermal atrophy, Pruritus, Papule	ORPHA:525
Breath-Holding Spells	Pallor	OMIM:607578
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Papule, Skin ulcer, Pruritus	ORPHA:409
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Sc...	OMIM:619751
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Reticular Dysgenesis	Skin rash, Weight loss, Skin ulcer, Failure to thrive	ORPHA:33355
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:31112
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Weight loss	ORPHA:141152
Dermatoosteolysis, Kirghizian Type	Keratitis, Dystrophic toenail, Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails...	ORPHA:1657
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss, Erythroderma, Skin ulcer	ORPHA:312
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte...	OMIM:271630
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Amyloidosis, Primary Localized Cutaneous, 2	Pruritus	OMIM:613955
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:617404
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Skin ulcer, Failure to thrive, Skin rash, Weight loss, Conj...	ORPHA:47
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Skin ulcer, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse ha...	ORPHA:1806
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Isolated Agammaglobulinemia	Skin rash, Recurrent cutaneous abscess formation, Skin ulcer, Failure to thrive	ORPHA:229717
Mucolipidosis Type Iii	Hyperlordosis, Acne, Abnormal form of the vertebral bodies, Corneal opacity	ORPHA:577
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Acrodermatitis Enteropathica	Erythema, Alopecia, Failure to thrive, Skin ulcer, Dry skin, Abnormal eyebrow morphology, Pustule...	ORPHA:37
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Prolidase Deficiency	Erythema, Skin ulcer, Dry skin, White forelock, Low anterior hairline, Generalized hirsutism, Apl...	ORPHA:742
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Exertional dyspnea, Scoliosis, Kyphosis, Keratoglobus	OMIM:108145
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Skin ulcer, Eczematoid dermatitis, Abnormal hair morphology, Skin rash, Skin vesicle, Dystrophic ...	ORPHA:2314
Free Sialic Acid Storage Disease	Iris hypopigmentation, Failure to thrive in infancy, Skin ulcer	ORPHA:834
Prolidase Deficiency	Skin ulcer, Failure to thrive, Eczematoid dermatitis, Facial hirsutism, Petechiae, Low posterior ...	OMIM:170100
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Ollier Disease	Platyspondyly, Subcutaneous nodule, Skin ulcer	ORPHA:296
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Takayasu Arteritis	Subcutaneous nodule, Weight loss, Skin ulcer, Abnormal pattern of respiration	ORPHA:3287
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Exertional dyspnea, Hyperlordosis	ORPHA:352470
Perching Syndrome	Respiratory distress, Scoliosis	OMIM:617055
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Scoliosis, Hyperlordosis	ORPHA:2310
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Leishmaniasis	Skin ulcer, Pallor, Weight loss, Skin plaque, Papule	ORPHA:507
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Microtriplication 11Q24.1	Keratoconus, Long eyelashes, Obesity, Thick eyebrow, Short neck, Scoliosis, Synophrys	ORPHA:289522
Familial Anetoderma	Lumbar hyperlordosis, Papule	ORPHA:228277
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Familial Multiple Nevi Flammei	Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Scoliosis	ORPHA:624
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin	ORPHA:743
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Scoliosis, Failure to thrive	OMIM:300934
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Optic Atrophy 1	Pallor	OMIM:165500
Werner Syndrome	Cataract, Abnormal hair whorl, Skin ulcer, Premature graying of hair, Slender build, White forelo...	ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 23	Astigmatism, Low anterior hairline, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple, Synophrys	OMIM:615761
Keratoconus Posticus Circumscriptus	Central posterior corneal opacity, Keratoconus, Short neck, Abnormal vertebral segmentation and f...	OMIM:244600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Keloids, Dry skin, Obesity, Hyperlordosis, Kyphosis	ORPHA:3085
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis...	OMIM:609223
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Scoliosis, Failure to thrive	OMIM:614399
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity	OMIM:255600
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Recurrent bacterial skin infections, Skin ulcer	ORPHA:217390
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Hemoglobin D Disease	Pallor	ORPHA:90039
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea	ORPHA:1832
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Weight loss, Skin ulcer	ORPHA:767
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Skin ulcer	OMIM:620603
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Scoliosis, Corne...	ORPHA:90354
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Scoliosis, Kyphosis, Obesity	OMIM:616756
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Diastrophic Dysplasia	Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Nevus flammeus, Kyphosco...	OMIM:222600
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis	OMIM:617977
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Buerger Disease	Skin ulcer	ORPHA:36258
Limited Cutaneous Systemic Sclerosis	Skin ulcer, Hypopigmented skin patches	ORPHA:220402
Infantile Myofibromatosis	Abnormal hair morphology, Subcutaneous nodule, Abnormal sacrum morphology, Skin ulcer	ORPHA:2591
Mhc Class I Deficiency 1	Ectopia lentis, Skin ulcer	OMIM:604571
Brooke-Spiegler Syndrome	Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Failure to thrive, Respiratory distress, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse h...	ORPHA:261304
Acute Radiation Syndrome	Cataract, Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Scaling skin	ORPHA:454831
Incontinentia Pigmenti	Cataract, Erythema, Alopecia, Keratitis, Hypopigmented skin patches, Skin ulcer, Supernumerary ni...	ORPHA:464
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule	ORPHA:48104
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Hyperlordosis, Death in infancy, Spinal rigidity	ORPHA:157973
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Alopecia, Recurrent skin infections	OMIM:616576
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Dyspnea, Slender build, Exertional dyspnea, Hyperlordosis	OMIM:615156
Rigid Spine Syndrome	Scoliosis, Hyperlordosis, Spinal rigidity	ORPHA:97244
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Decreased body weight	OMIM:300580
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Death in ...	OMIM:256050
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Cystic acne, Acne	OMIM:604416
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tac...	ORPHA:79242
Hereditary Acrokeratotic Poikiloderma	Papule, Erythema, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Eczematoid dermatit...	ORPHA:2907
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Failure to thrive, Death in infancy	OMIM:616974
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Dystonia 31	Abnormal posturing	OMIM:619565
Nemaline Myopathy 5C, Autosomal Dominant	Slender build, Scoliosis, Hyperlordosis	OMIM:620389
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor	OMIM:613561
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Failure to thrive	ORPHA:26792
Mulchandani-Bhoj-Conlin Syndrome	Failure to thrive, Hyperlordosis, Hypermelanotic macule, Scoliosis, Cafe-au-lait spot	OMIM:617352
Myasthenic Syndrome, Congenital, 16	Apnea, Hyperlordosis	OMIM:614198
Anauxetic Dysplasia 2	Sparse hair, Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyph...	OMIM:617396
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis	OMIM:619042
Reynolds Syndrome	Skin rash, Pruritus, Keratoconjunctivitis sicca, Skin ulcer	ORPHA:779
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Erythematous papule, Skin ulcer, Erythematous plaque	ORPHA:86884
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Acral ulceration, Nail dystrophy, Recurrent corneal erosions, Opacif...	OMIM:256800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Failure to thrive	OMIM:612075
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis	OMIM:611067
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis	ORPHA:408
Congenital Myopathy 16	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	OMIM:618524
Juvenile Dermatomyositis	Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Weight loss, Dyspnea, Pruritus	ORPHA:93672
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Acquired Purpura Fulminans	Macular purpura, Skin rash, Macule, Pyoderma gangrenosum, Erythematous macule	ORPHA:49566
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Dyskeratosis Congenita	Sparse hair, Cataract, Alopecia, Hypopigmented skin patches, Skin ulcer, Premature graying of hai...	ORPHA:1775
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Dyspnea, Scoliosis, Spinal rigidity	ORPHA:86812
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Respiratory distress, Weight loss, Macule, Conjunctivitis, Corneal erosion	ORPHA:537
Congenital Myopathy 2A, Typical, Autosomal Dominant	Slender build, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:161800
Immunodeficiency 95	Respiratory distress	OMIM:619773
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Scoliosis	ORPHA:254875
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis	ORPHA:280333
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Skin ulcer, Skin fissure, Sparse hair	ORPHA:659
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Tularemia	Localized skin lesion, Cutaneous abscess, Respiratory distress, Skin rash, Conjunctival hyperemia...	ORPHA:3392
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Scoliosis, Skin dimple	ORPHA:1143
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Irida Syndrome	Pallor	ORPHA:209981
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low posterior hairline, Cataract, Scoliosis, Hyperlordosis	ORPHA:1387
Meige Disease	Atypical scarring of skin, Skin erosion, Skin ulcer, Recurrent skin infections, Recurrent bacteri...	ORPHA:90186
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Early balding, Frontal balding, Lumbar hyperlordosis, Kyphoscoliosis, Thoracolumbar scoliosis, Bl...	ORPHA:3041
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Respiratory distress, Skin tags, Lumbar hyperlordosis, Redundant skin, Neonatal de...	OMIM:616482
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Cryoglobulinemic Vasculitis	Petechiae, Keratoconjunctivitis sicca, Purpura, Skin ulcer	ORPHA:91138
Nemaline Myopathy 2	Slender build, Apnea, Hyperlordosis, Scoliosis, Spinal rigidity	OMIM:256030
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Scoliosis, Death in infancy	OMIM:615042
Hajdu-Cheney Syndrome	Cataract, Iris coloboma, Coarse hair, Failure to thrive, Skin ulcer, Hypoplastic 5th lumbar verte...	ORPHA:955
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis	ORPHA:363454
Costello Syndrome	Keratoconus, Failure to thrive in infancy, Abnormal hair morphology, Redundant skin, Lack of skin...	ORPHA:3071
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Failure to thrive, Erythroderma, Conjunctivitis, Sparse hair	OMIM:242150
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Attenuated Chédiak-Higashi Syndrome	Skin ulcer, Ocular albinism	ORPHA:352723
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Skin rash, Pruritus, Papule	ORPHA:1334
Adult Syndrome	Alopecia, Absent nipple, Skin ulcer, Fine hair, Dry skin, Melanocytic nevus, Breast hypoplasia, H...	ORPHA:978
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Hirsutism, Decreased corneal thickness	ORPHA:293967
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Pleural Mesothelioma	Respiratory distress, Dyspnea, Weight loss	ORPHA:50251
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Penetrating foot ulcers, Kyphoscoliosis, Buphthalmos, Scoliosis, Developmental glaucoma	ORPHA:99956
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Pallor, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:536516
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lumbar vertebra...	OMIM:264180
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Acral ulceration	OMIM:162400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Kyphoscoliosis, Hyperlordosis, Truncal obesity, Coronal cleft vertebrae, Scoliosis, Irre...	OMIM:618363
Diaphanospondylodysostosis	Respiratory distress, Short neck, Abnormal vertebral segmentation and fusion, Absent or minimally...	ORPHA:66637
Infantile Systemic Hyalinosis	Short neck, Subcutaneous nodule, Skin ulcer, Failure to thrive	ORPHA:2176
Livedoid Vasculopathy	Erythematous papule, Skin ulcer, Macular purpura, Atrophic scars, Superficial dermal perivascular...	ORPHA:542643
Schimke Immunoosseous Dysplasia	Platyspondyly, Coarse hair, Hypermelanotic macule, Fine hair, Lumbar hyperlordosis, Astigmatism, ...	OMIM:242900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Cataract, Scoliosis, Failure to thrive	ORPHA:544503
Ck Syndrome	Slender build, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Succinic Acidemia	Respiratory distress	OMIM:600335
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Fine hair, Increased vertebral height, Kyphoscoliosis, Hyperlordos...	OMIM:616817
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Lumbar hyperlordosis, Spotty hypopigmentation, Scoliosis, Cafe-au-lait spot	OMIM:619719
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Blau Syndrome	Cataract, Band keratopathy, Skin ulcer, Eczematoid dermatitis, Intermittent generalized erythemat...	OMIM:186580
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Oculocerebrofacial Syndrome, Kaufman Type	Preauricular skin tag, Microcornea, Failure to thrive, Respiratory distress, Thin eyebrow, Absent...	ORPHA:2707
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Greig Cephalopolysyndactyly Syndrome	Keratoconus, Hirsutism	OMIM:175700
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea, Small for gestational age	ORPHA:70589
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Alagille Syndrome	Keratoconus, Abnormal form of the vertebral bodies, Failure to thrive, Abnormal pupil morphology,...	ORPHA:52
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum, Chronic oral candidiasis	OMIM:150550
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Odontochondrodysplasia	Respiratory distress, Platyspondyly, Scoliosis, Death in infancy	ORPHA:166272
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Fusariosis	Keratitis, Skin ulcer, Maculopapular exanthema, Subcutaneous nodule, Papule, Skin detachment	ORPHA:228119
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Long eyelashes, Lumbar hyperlordosis, Cutis laxa, Scoliosis, Ovoid vertebr...	OMIM:619451
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Hyperlordosis	ORPHA:369840
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Dominant Beta-Thalassemia	Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Skin ulcer	ORPHA:220393
Myelofibrosis	Purpura, Pallor	OMIM:254450
Malaria	Respiratory distress	ORPHA:673
Microscopic Polyangiitis	Skin rash, Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:727
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Hyperlordosis, Thoracic scoliosis	ORPHA:62
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic kyphosis, Lumbar hyperlordosis, Thoracic scoliosis	ORPHA:206546
Pgm3-Cdg	Atopic dermatitis, Eczematoid dermatitis, Skin ulcer, Failure to thrive, Cutaneous abscess, Recur...	ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Death in childhood	OMIM:615597
Amoebiasis Due To Free-Living Amoebae	Corneal perforation, Unusual skin infection, Skin ulcer, Conjunctival hyperemia, Pustule, Subcuta...	ORPHA:68
Gapo Syndrome	Sparse hair, Keratoconus, Alopecia, Sparse eyebrow, Epidermoid cyst, Megalocornea, Breast hypopla...	OMIM:230740
Rodrigues Blindness	Microcornea, Fine hair, Nasal flaring, Sclerocornea, Sparse hair	OMIM:268320
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Pachyonychia Congenita	Cutaneous cyst, Alopecia, Failure to thrive, Epidermoid cyst, Respiratory distress, Nail dystroph...	ORPHA:2309
Chronic Granulomatous Disease	Eczematoid dermatitis, Hypermelanotic macule, Skin ulcer, Macule	ORPHA:379
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Primary Myelofibrosis	Purpura, Petechiae, Pallor, Ecchymosis	ORPHA:824
Systemic Sclerosis	Alopecia, Digital ulcer, Acral ulceration, Spotty hypopigmentation, Cutaneous sclerotic plaque, D...	ORPHA:90291
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Cataract, Lentiglobus, Atypical scarring of skin, Failure to thrive, Skin ulcer, F...	ORPHA:534
Giant Cell Arteritis	Alopecia, Weight loss, Skin ulcer	ORPHA:397
Sweet Syndrome	Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla...	ORPHA:3243
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Cataract, Microcornea, Cervical kyphosis, Lumbar hyperlordosis, Long eyelashes in ...	OMIM:255800
Hypochondroplasia	Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies	ORPHA:429
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Skin ulcer, Erysipelas, Abnormal hair morphology, Dry skin, Leukonychia, Scaling skin, ...	ORPHA:2526
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Large for gestational age	ORPHA:45452
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An...	OMIM:253000
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea, Abnormal posturing, Failure to thrive	OMIM:614857
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Elliptocytosis 1	Pallor	OMIM:611804
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
King-Denborough Syndrome	Failure to thrive, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Scoliosis, Thoracic kyphosis	OMIM:619542
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Failure to thrive	OMIM:263000
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Skin rash, Pruritus, Subcutaneous nodule, Papule	ORPHA:556
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Respiratory distress, Disc-like vertebral bodies, Short neck, Severe plat...	OMIM:151210
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyebrow, Hypopigmented skin patches, Abnormal form of the vertebral...	ORPHA:2067
Odontochondrodysplasia 1	Platyspondyly, Biconvex vertebral bodies, Respiratory distress, Death in infancy, Coronal cleft v...	OMIM:184260
Leprosy	Corneal perforation, Alopecia, Urticarial plaque, Hypopigmented macule, Penetrating foot ulcers, ...	ORPHA:548
Autosomal Dominant Spondylocostal Dysostosis	Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Abnormal sacrum m...	ORPHA:1797
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic toenail, Dystrophic fingernails, Hyperlordosis	ORPHA:970
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Fair hair, Inappropriate laughter, Obesity, Astigmatism, Scol...	ORPHA:72
Dravet Syndrome	Pallor	ORPHA:33069
Dermatomyositis	Erythema, Alopecia, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Skin rash, Aplasia/Hypoplasia ...	ORPHA:221
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Oculoskeletodental Syndrome	Abnormality of the frontal hairline, Hyperlordosis, Developmental cataract, Scoliosis, Thoracic k...	ORPHA:557003
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa	OMIM:608068
Granulomatosis With Polyangiitis	Conjunctivitis, Weight loss, Keratitis, Skin ulcer	OMIM:608710
Cushing Disease	Acne, Skin ulcer, Striae distensae, Ecchymosis, Increased body weight, Hirsutism, Recurrent cutan...	ORPHA:96253
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive	OMIM:245590
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age	OMIM:616733
Congenital Heart Block	Pallor	ORPHA:60041
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	ORPHA:99642
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Recurrent skin infections	ORPHA:486
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Hyperlordosis, Shagreen patch	ORPHA:2511
Familial Keratoacanthoma	Subcutaneous nodule, Papule, Skin ulcer	ORPHA:493
Myopathy, Distal, 1	Lumbar hyperlordosis, Scoliosis	OMIM:160500
Beta-Thalassemia Major	Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Wieacker-Wolff Syndrome	High anterior hairline, Apnea, Short neck, Hyperlordosis, Scoliosis, Kyphosis	OMIM:314580
Acrocapitofemoral Dysplasia	Scoliosis, Hyperlordosis, Ovoid vertebral bodies	ORPHA:63446
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lumbar hyperlordosis, Lester's sign, Antecubital pterygium, M...	OMIM:161200
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Astigmatism, Low anterior hairline, Lumbar scoliosis, Cervical C2/C3 verteb...	OMIM:617796
Huntington Disease-Like 1	Weight loss, Abnormal posturing	ORPHA:157941
Cold Agglutinin Disease	Pallor	ORPHA:56425
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Nail dystrophy, Skin ulcer, Corneal pterygium	OMIM:245660
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Hypertrichosis, Large for gestational age, Low an...	ORPHA:363705
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Myotonic Dystrophy 1	Respiratory distress, Cataract, Frontal balding	OMIM:160900
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis	OMIM:128100
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Myopic astigmatism, Obesity, Thick eyebrow, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Ky...	OMIM:618443
Chronic Pneumonitis Of Infancy	Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation	ORPHA:91359
Wiskott-Aldrich Syndrome	Keratitis, Skin ulcer, Eczematoid dermatitis, Petechiae, Dyspnea, Conjunctivitis, Purpura	ORPHA:906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:606612
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Kniest Dysplasia	Platyspondyly, Cataract, Respiratory distress, Short neck, Lumbar kyphoscoliosis, Coronal cleft v...	OMIM:156550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Chronic Graft Versus Host Disease	Erythema, Alopecia, Skin ulcer, Nail dystrophy, Recurrent corneal erosions, Skin vesicle, Keratoc...	ORPHA:99921
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Pruritus, Keratoconjunctivitis sicca, Conjunctivitis, Papule	ORPHA:411777
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Hyperlordosis, Spinal rigidity	ORPHA:267
Episodic Ataxia Type 1	Respiratory distress, Scoliosis, Kyphoscoliosis	ORPHA:37612
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Miscarriage	ORPHA:464343
Gm1 Gangliosidosis	Platyspondyly, Abnormal form of the vertebral bodies, Failure to thrive, Hirsutism, Generalized h...	ORPHA:354
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Dyspnea, Lumbar hyperlordosis	ORPHA:435387
Laryngomalacia	Respiratory distress	OMIM:150280
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Abnormal form of the vertebral bodies, Hemivertebrae	ORPHA:2759
Blau Syndrome	Cataract, Erythema, Keratitis, Skin ulcer, Dry skin, Skin rash, Erythema nodosum, Dyspnea, Papule	ORPHA:90340
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Failure to thrive, Skin ulcer, Premature graying of hair, Abnormal...	ORPHA:79474
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Atypical scarring of skin, Inflammatory abnormality of the skin, Kerati...	ORPHA:95455
Thoracomelic Dysplasia	Low posterior hairline, Short neck, Hyperlordosis	ORPHA:1803
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Corneal opacity, Cervical sublu...	OMIM:253010
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Scoliosis, Kyphosis	OMIM:211530
Three M Syndrome 3	Increased vertebral height, Decreased body weight, Short neck, Hyperlordosis, Small for gestation...	OMIM:614205
Hereditary Spherocytosis	Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Desbuquois Dysplasia 1	Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Developmental glaucoma	OMIM:251450
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Failure to thrive	ORPHA:60032
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Scoliosis, Failure to thrive	OMIM:255310
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Respiratory distress...	OMIM:183900
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Hyperlordosis, Back pain	OMIM:618129
Surfactant Metabolism Dysfunction, Pulmonary, 3	Failure to thrive, Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exer...	OMIM:610921
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Failure to thrive	OMIM:608799
Three M Syndrome 1	Increased vertebral height, Thick eyebrow, Short neck, Hyperlordosis, Spina bifida occulta, Small...	OMIM:273750
Ramos-Arroyo Syndrome	High anterior hairline, Keratitis, Respiratory distress, Decreased body weight, Severe failure to...	ORPHA:1051
Mucolipidosis Iii Gamma	Short neck, Hyperlordosis, Opacification of the corneal stroma, Scoliosis, Kyphosis	OMIM:252605
Arterial Tortuosity Syndrome	Keratoconus, Thin skin, Respiratory distress, Redundant skin, Dyspnea, Scoliosis, Keratoglobus	ORPHA:3342
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Nocturnal hypoventilation, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Spinal rigidity	OMIM:609308
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Kyphoscoliosis	ORPHA:98805
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Scoliosis, Hyperlordosis	OMIM:617760
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Corneal opacity, Sparse hair	ORPHA:3474
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Pallor, Hyperlordosis, Failure to thrive	OMIM:600462
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Kyphoscoliosis	ORPHA:1145
Spondyloepiphyseal Dysplasia Tarda	Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste...	ORPHA:93284
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Failure to thrive	ORPHA:79312
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Skin rash, Pustule, Macule, Purpura	ORPHA:761
Myasthenic Syndrome, Congenital, 14	Scoliosis, Hyperlordosis	OMIM:616228
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Scoliosis, Failure to thrive, Low anterior hairline	ORPHA:329178
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Spina bifida occulta, Opacification of the corneal stroma, Iris coloboma, B...	OMIM:169550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Stt3B-Cdg	Respiratory distress, Failure to thrive	ORPHA:370924
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Abnormality of the vertebral column, Hyperlordosis	ORPHA:52430
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Corneal opacity, Scoliosis, Kyph...	ORPHA:582
Tetrasomy 5P	Failure to thrive, Respiratory distress, Preauricular pit, Redundant neck skin, Short neck, Wide ...	ORPHA:3309
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea, Weight loss	ORPHA:411703
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Failure to thrive	OMIM:250940
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis	ORPHA:1192
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Lumbar hyperlordosis, Back pain	OMIM:167320
Tay-Sachs Disease	Pallor	OMIM:272800
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Developmental cataract, Wide anterior fontanel, Neonatal death	OMIM:231680
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Failure to thrive in infancy, Tachypnea	ORPHA:264675
Microphthalmia, Lenz Type	Cataract, Microcornea, Preauricular skin tag, Hyperlordosis, Scoliosis, Iris coloboma, Kyphosis	ORPHA:568
Isolated Atp Synthase Deficiency	Respiratory distress, Cataract	ORPHA:254913
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Respiratory distress, Corneal scarring, Acral ulceration, Recurrent corneal er...	OMIM:256810
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Skin ulcer, Urticarial plaque, Skin rash, Erythema nodosum, Purpura	OMIM:615688
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Dry skin, Large for gestational age	ORPHA:226313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Scoliosis, Hyperlordosis	OMIM:613156
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Skin ulcer, Ecchymosis, Cachexia, Corneal opacity, Scoliosis	ORPHA:2072
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer	OMIM:620443
Progressive Pseudorheumatoid Arthropathy Of Childhood	Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi...	ORPHA:1159
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Atlantoaxial dislocation, Microcornea, Thin skin, Congenital kyphoscoliosis, Respi...	ORPHA:536467
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Plague	Localized skin lesion, Mydriasis, Skin ulcer, Chapped lip, Respiratory distress, Dry skin, Skin r...	ORPHA:707
Typical Nemaline Myopathy	Nocturnal hypoventilation, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:171436
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Facial hirsutism, Thick eyebrow, Scoliosis	OMIM:619383
Pseudoachondroplasia	Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ...	ORPHA:750
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Short neck, Failure to thrive, Generalized hypertrichosis	ORPHA:50810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	ORPHA:927
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Hypertrichosis, Respiratory distress, Astigmatism, Unilateral breast hypoplasia, Scolio...	OMIM:300968
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis	OMIM:613818
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema	ORPHA:100057
Myotonia Permanens	Dyspnea, Hyperlordosis	ORPHA:99735
Developmental And Speech Delay Due To Sox5 Deficiency	Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis	ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis	OMIM:184250
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Schwartz-Jampel Syndrome	Platyspondyly, Cataract, Microcornea, Ectopia lentis, Abnormal eyebrow morphology, Apnea, Long ey...	ORPHA:800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne...	OMIM:184100
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Weight loss	ORPHA:142
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Abnormal posturing	ORPHA:216866
Carnitine Deficiency, Systemic Primary	Respiratory distress, Failure to thrive	OMIM:212140
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98863
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Keratoconus, Microcornea, Platyspondyly, Molluscoid pseudotumor...	OMIM:225400
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism, Cutis laxa, Scoliosis, Thin skin	OMIM:208050
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Petechiae, Decreased body weight, Neonatal death, Purpura	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Scoliosis, Hyperlordosis, Failure to thrive, Curly hair	OMIM:300986
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Warburg-Cinotti Syndrome	Symblepharon, Erythema, Thin skin, Corneal neovascularization, Limbal stem cell deficiency, Decre...	OMIM:618175
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98855
Primary Sjögren Syndrome	Corneal perforation, Skin ulcer, Dry skin, Lichenoid skin lesion, Keratoconjunctivitis sicca, Ery...	ORPHA:289390
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Failure to thrive, Multiple lentigines, Lumbar hyperlordosis, Short neck, Corneal ...	ORPHA:1830
American Trypanosomiasis	Pallor	ORPHA:3386
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ...	ORPHA:348
Farber Disease	Failure to thrive, Respiratory distress, Periarticular subcutaneous nodules, Corneal opacity, Opa...	ORPHA:333
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Weight loss	ORPHA:1302
Parkes Weber Syndrome	Skin ulcer, Capillary malformation, Erythematous plaque, Scaling skin, Back pain	ORPHA:90307
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Failure to thrive in infancy, Skin rash, Pustule, Fused cervical vertebrae	OMIM:612852
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Preauricular skin tag, Respiratory distress, Obesity, Reduced social recip...	ORPHA:177907
Myopathy, Centronuclear, 1	Hyperlordosis	OMIM:160150
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis	OMIM:165800
Lateral Meningocele Syndrome	Iris coloboma, Abnormal form of the vertebral bodies, Low posterior hairline, Short neck, Hyperlo...	ORPHA:2789
Diaphanospondylodysostosis	Unossified sacrum, Respiratory distress, Absent in utero ossification of vertebral bodies, Verteb...	OMIM:608022
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Obesity, Tachypne...	ORPHA:26793
Frontorhiny	Dermoid cyst, Cataract, Preauricular skin tag, Lumbar hyperlordosis, Scoliosis, Iris coloboma, Wi...	ORPHA:391474
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co...	ORPHA:141083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Fucosidosis	Anterior beaking of thoracic vertebrae, Failure to thrive, Cervical platyspondyly, Tortuosity of ...	OMIM:230000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Periorbital wrinkles, Sparse body hair, Res...	OMIM:305100
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98853
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea, Conjunctivitis, Miscarriage	ORPHA:454836
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Granulomatosis With Polyangiitis	Skin ulcer, Skin rash, Weight loss, Papule, Purpura	ORPHA:900
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive	OMIM:618201
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Lumbar hyperlordosis, Abnormality iris morphology, Megalocornea	ORPHA:370959
Mucopolysaccharidosis-Plus Syndrome	Coarse hair, Respiratory distress, Long eyelashes, Death in childhood, Low anterior hairline, Low...	OMIM:617303
Tetanus	Respiratory distress, Localized skin lesion, Tachypnea	ORPHA:3299
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Achondroplasia	Respiratory distress, Lumbar hyperlordosis, Death in infancy, Narrow vertebral interpedicular dis...	OMIM:100800
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can...	ORPHA:15
Hallermann-Streiff Syndrome	Sparse hair, Cataract, Sparse eyebrow, Fine hair, Dry skin, Dermal atrophy, Sparse eyelashes, Hyp...	OMIM:234100
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ...	OMIM:609616
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea, Failure to thrive	OMIM:237310
Biotinidase Deficiency	Alopecia, Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Conjunctivitis, Hyperven...	ORPHA:79241
Moebius Syndrome	Respiratory distress, Short neck	OMIM:157900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenos...	OMIM:616007
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Hyperlordosis	ORPHA:269
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Acral ulceration	OMIM:608654
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Nevus flammeus, Obesity, Astigmatism, Hirsutism, Hyperlordosis, Synophrys	OMIM:616078
Cohen Syndrome	Lumbar hyperlordosis, Thick eyebrow, Thoracic scoliosis, Childhood-onset truncal obesity, Small f...	OMIM:216550
3Mc Syndrome	Highly arched eyebrow, Caudal appendage, Supernumerary nipple, Prominent coccyx, Abnormal anterio...	ORPHA:293843
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis	OMIM:162370
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Jansen-De Vries Syndrome	Hyperlordosis	OMIM:617450
Braddock-Carey Syndrome 1	Sparse hair, Hyperlordosis, Curly hair	OMIM:619980
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Skin ulcer, Striae distensae, Ecchymosis, Increased body weight, Hirsutism, Recurrent cutan...	ORPHA:99889
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon...	ORPHA:93352
Three M Syndrome 2	Short neck, Small for gestational age, Hyperlordosis, Lumbar hyperlordosis	OMIM:612921
Joubert Syndrome 37	Lumbar hyperlordosis, Sparse hair, Obesity	OMIM:619185
Letterer-Siwe Disease	Pallor	OMIM:246400
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Butterfly vertebrae, Small for gestational age, Failure to thrive	OMIM:607143
Mogs-Cdg	Alopecia, Fair hair, Respiratory distress, Long eyelashes, Apnea, Hypoventilation, Thoracic scoli...	ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Rhizomelic Dysplasia, Patterson-Lowry Type	Hyperlordosis, Abnormal form of the vertebral bodies	ORPHA:2831
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Low posterior hairline, Scoliosis, Hyperlordosis, Vertebral segmentation defect	ORPHA:1323
Mgat2-Cdg	Failure to thrive, Respiratory distress, Long eyelashes, Hirsutism, Hypoplastic nipples, Scoliosi...	ORPHA:79329
Alfadhel Syndrome	Highly arched eyebrow, Nasal flaring	OMIM:620655
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scoliosis, Coronal cleft vertebrae, Butterfly vertebrae, Hyperlordosis	OMIM:618870
Down Syndrome	Atlantoaxial dislocation, Keratoconus, Cataract, Obesity, Short neck, Sparse hair	ORPHA:870
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Vici Syndrome	Cataract, Abnormal posturing, Failure to thrive, Ocular albinism, Chronic mucocutaneous candidias...	OMIM:242840
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Abdominal obesity	OMIM:615980
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea	ORPHA:247257
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
Triosephosphate Isomerase Deficiency	Failure to thrive, Respiratory distress, Death in infancy, Death in adolescence, Kyphosis	OMIM:615512
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Respiratory distress, Fail...	ORPHA:37042
Coccidioidomycosis	Indurated nodule, Atypical scarring of skin, Folliculitis, Abnormality of the vertebral column, U...	ORPHA:228123
3M Syndrome	Increased vertebral height, Thick eyebrow, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:2616
Infantile Krabbe Disease	Respiratory distress, Cachexia, Failure to thrive, Hypopigmented skin patches	ORPHA:206436
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Skin ulcer	OMIM:116920
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Leukonychia, Sparse eyelashes, Hyperlordosis, Sparse hair, Scoliosis	ORPHA:77258
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Small for gestational age, Kyphosis, Fair hair, Cervical spinal canal stenosis, Eczemat...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Small for gestational age, Kyphosis, Fair hair, Cervical spinal canal stenosis, Eczemat...	ORPHA:363958
Pelvis-Shoulder Dysplasia	Microcornea, Abnormal form of the vertebral bodies, Facial hirsutism, Lumbar hyperlordosis, Promi...	ORPHA:2839
Severe Generalized Junctional Epidermolysis Bullosa	Skin erosion, Abnormal cornea morphology, Alopecia, Failure to thrive, Respiratory distress, Pyod...	ORPHA:79404
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Failure to thrive	OMIM:619272
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Obesity, Irregular vertebral ...	ORPHA:174
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Obesity	ORPHA:791
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Failure to thrive, Hypopigmented skin patches, Respiratory distress, Dermal atrophy, Ap...	ORPHA:2556
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Hypochondroplasia	Lumbar hyperlordosis, Widened interpedicular distance	OMIM:146000
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea, Failure to thrive, Death in childhood	OMIM:220110
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Adnp Syndrome	High anterior hairline, Respiratory distress, Astigmatism, Reduced social reciprocity, Juvenile c...	ORPHA:404448
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Striae distensae, Lumbar hype...	OMIM:608328
Bacterial Toxic-Shock Syndrome	Localized skin lesion, Respiratory distress, Skin rash, Ecchymosis, Tachypnea, Scaling skin, Recu...	ORPHA:36234
Osteopathia Striata-Cranial Sclerosis Syndrome	Spina bifida occulta, Scoliosis, Hyperlordosis, Cataract	ORPHA:2780
Acromesomelic Dysplasia 1	Thoracolumbar kyphosis, Short nail, Lumbar hyperlordosis, Thoracolumbar interpediculate narrownes...	OMIM:602875
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Posterior subcapsular cataract, Lumbar hyperlordosis, Astigmatism, Lumbar kyphosis, Back pain	OMIM:619234
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Decreased body weight, Short neck, Hyperlordosis	OMIM:615222
Osteogenesis Imperfecta, Type X	Platyspondyly, Respiratory distress, Death in childhood, Thoracic scoliosis, Vertebral compressio...	OMIM:613848
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Scoliosis	ORPHA:353
Ring Chromosome 12 Syndrome	Dystrophic toenail, Breast hypoplasia, Lumbar hyperlordosis, Hirsutism, Acne, Small for gestation...	ORPHA:1439
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Sparse lateral eyebrow, Hypoventilation	ORPHA:314655
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Muscular Dystrophy, Duchenne Type	Scoliosis, Hyperlordosis, Hypoventilation	OMIM:310200
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Trichodermodysplasia-Dental Alterations Syndrome	Sparse lateral eyebrow, Fine hair, Sparse or absent eyelashes, Brittle hair, Multiple cafe-au-lai...	ORPHA:3353
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Failure to thrive	OMIM:615595
Simple Cryoglobulinemia	Localized skin lesion, Weight loss, Purpura, Acral ulceration	ORPHA:91139
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrichosis, Respiratory distress, Lumbar hyperlordosis, Long eyelashes, Lumbar kyphosis, Shor...	ORPHA:505248
Alternating Hemiplegia Of Childhood	Mydriasis, Failure to thrive, Respiratory distress, Thin eyebrow, Apnea, Pallor	ORPHA:2131
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hyperlordosis	OMIM:611588
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Scoliosis	ORPHA:353327
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Bethlem Muscular Dystrophy	Cigarette-paper scars, Lumbar hyperlordosis, Hypoventilation, Scoliosis, Spinal rigidity	ORPHA:610
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hirsutism, Hyperlordosis, Scoliosis, Spinal rigidity	OMIM:613327
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea	ORPHA:36238
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cataract, Zonular cataract	OMIM:616271
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates	OMIM:156500
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Congenital Myopathy 10B, Mild Variant	Scoliosis, Hyperlordosis	OMIM:620249
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Coronal cleft ver...	ORPHA:1427
Distal Deletion 10Q	Failure to thrive, Lumbar hyperlordosis, Astigmatism, Spina bifida occulta, Widow's peak	ORPHA:96148
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Short neck, Redundant neck skin, Wide anterior fontanel	OMIM:217980
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula...	OMIM:602557
Cap Myopathy	Lumbar hyperlordosis, Thoracic scoliosis, Central hypoventilation	ORPHA:171881
Neuroblastoma	Respiratory distress, Anemic pallor, Weight loss, Subcutaneous nodule	ORPHA:635
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Failure to thrive	OMIM:251000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis	OMIM:617821
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Hypertrichosis	OMIM:271225
Satoyoshi Syndrome	Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes, Hyperlordosis	ORPHA:3130
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Sparse eyebrow, Low posterior hairline	OMIM:606164
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Redundant neck skin, Supernumerary nipple	ORPHA:2519
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis	OMIM:114300
Trichorhinophalangeal Syndrome, Type I	Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Hyperlordosis, Slow-growing hair, S...	OMIM:190350
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Platyspondyly, Preauricular skin tag, Biconvex vertebral bodies, V...	ORPHA:93315
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Scoliosis, Exertional dyspnea, Hypoventilation	ORPHA:98915
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Hyperlordosis, Wide anterior fontanel	ORPHA:26791
Martsolf Syndrome 1	Cataract, Lumbar hyperlordosis, Thoracic scoliosis, Low posterior hairline, Low anterior hairline...	OMIM:212720
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Sparse body hair	ORPHA:3068
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Scoliosis, Hyperlordosis	OMIM:253700
Chitayat Syndrome	Respiratory distress	OMIM:617180
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Failure to thrive	ORPHA:367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Meier-Gorlin Syndrome 1	Failure to thrive, Respiratory distress, Breast hypoplasia, Long eyelashes, Death in infancy, Hem...	OMIM:224690
Spondylocarpotarsal Synostosis Syndrome	Cataract, Block vertebrae, Hypoplasia of the odontoid process, Preauricular skin tag, C2-C3 sublu...	OMIM:272460
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ...	ORPHA:94068
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Campomelic Dysplasia	Cervical kyphosis, Hypoplastic cervical vertebrae, Failure to thrive, Short nail, Respiratory dis...	OMIM:114290
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Episodic respiratory distress, Kyphoscoliosis, Apneic episodes pr...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Episodic respiratory distress, Kyphoscoliosis, Apneic episodes pr...	ORPHA:98914
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Skin nodule, Eczematoid dermatitis, Resp...	ORPHA:3260
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hyperlordosis, Overweight, Scoliosis, Kyphosis	ORPHA:763
Hereditary Elliptocytosis	Skin ulcer	ORPHA:288
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Pallor	OMIM:301310
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Abnormal form of the vertebral bodies	ORPHA:3218
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Cartilage-Hair Hypoplasia	Sparse eyebrow, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Failure to thri...	ORPHA:175
Aregenerative Anemia	Pallor	ORPHA:101096
Myopathy, Myofibrillar, 7	Thoracic kyphosis, Scoliosis, Lumbar hyperlordosis, Spinal rigidity	OMIM:617114
Intellectual Developmental Disorder, Autosomal Dominant 73	Axillary pterygium, Highly arched eyebrow, Lumbar hyperlordosis, Melanocytic nevus, Thick eyebrow...	OMIM:620450
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Short neck, Synophrys, Scoliosis, Spinal rigidity	OMIM:620369
Esophageal Atresia	Abnormal vertebral morphology, Respiratory distress, Failure to thrive in infancy, Pallor, Episod...	ORPHA:1199
Adenohypophysitis	Pallor	ORPHA:95512
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Mucopolysaccharidosis, Type X	Platyspondyly, Beaking of vertebral bodies, Hyperlordosis, Scoliosis, Posterior scalloping of ver...	OMIM:619698
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Nuclear cataract	ORPHA:2848
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Short neck, Scoliosis, Hyperlordosis	OMIM:615065
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Subcutaneous nodule, Melanocytic nevus	ORPHA:1555
Autosomal Recessive Centronuclear Myopathy	Hyperlordosis	ORPHA:169186
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Medial flaring of the eyebrow, Low posterior hairline, Sparse eyelashes	OMIM:612863
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Decreased body weight, Corneal opacity, Scoliosis, Corneal ulceration	OMIM:615273
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Panhypophysitis	Pallor	ORPHA:95513
Cartilage-Hair Hypoplasia	Sparse eyebrow, Hypoplasia of the odontoid process, Fair hair, Fine hair, Lumbar hyperlordosis, S...	OMIM:250250
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in childhood, Death in infancy, Thoracic scoliosis	OMIM:620278
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Lumbar hyperlordosis, Shallow...	OMIM:277600
Alexander Disease	Failure to thrive, Short neck, Hyperlordosis, Hyperpigmented nevi, Scoliosis, Kyphosis	ORPHA:58
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Kyphoscoliosis, Purpura, Hyp...	OMIM:607944
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Hypoplasia of the odontoid process, Preauricular pit, Hyperlordosis, Irregular ver...	OMIM:226980
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Shwachman-Diamond Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Ovoid vertebral bodies	OMIM:260400
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Failure to thrive in infancy, Thoracic kyphoscoliosis, Increased vertebral height, Lumbar hyperlo...	OMIM:613385
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Limbal edema	ORPHA:100050
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Congenital Enterovirus Infection	Respiratory distress, Skin rash	ORPHA:292
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Skin tags, Preauricular pit, Redundant neck skin, Palmoplantar cutis laxa	OMIM:123790
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Lujo Hemorrhagic Fever	Respiratory distress, Skin rash, Ecchymosis, Maculopapular exanthema, Purpura	ORPHA:319213
Rubinstein-Taybi Syndrome 1	Cataract, Facial hypertrichosis, Keloids, Highly arched eyebrow, Failure to thrive, Respiratory d...	OMIM:180849
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Chromosome 10Q26 Deletion Syndrome	Low posterior hairline, Short neck, Small for gestational age, Lumbar hyperlordosis	OMIM:609625
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Listeriosis	Unusual skin infection, Respiratory distress, Pustule, Intermittent generalized erythematous papu...	ORPHA:533
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Failure to thrive, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Failure to thrive, Obesity, Astigmatism, Reduced social reciprocity, Hype...	OMIM:615873
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Pituitary Apoplexy	Pallor	ORPHA:95613
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Dermoid cyst, Horizontal eyebrow, Lumbar hyperlordosis, Central apnea, Abnormal location of the e...	ORPHA:522077
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlordosis, Anterior wedgin...	OMIM:253200
Nocardiosis	Keratitis, Cutaneous abscess, Respiratory distress, Weight loss, Dyspnea, Conjunctivitis, Subcuta...	ORPHA:31204
Nail-Patella Syndrome	Spondylolysis, High anterior hairline, Lumbar hyperlordosis, Abnormal iris pigmentation, Spondylo...	ORPHA:2614
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Preauricular skin tag, High anterior hairline, Horizontal eyebrow, Failure to thrive, Nevus, Spar...	OMIM:619950
Auriculocondylar Syndrome	Respiratory distress, Preauricular skin tag, Periauricular skin pits	ORPHA:137888
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Preauricular skin tag	OMIM:610536
Acromesomelic Dysplasia 4	Platyspondyly, Hypertrichosis, Thoracic platyspondyly, Lumbar hyperlordosis, Thick eyebrow, Thora...	OMIM:619636
Fumarase Deficiency	Pallor	OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Mercury Poisoning	Respiratory distress, Dyspnea	ORPHA:330021
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord...	OMIM:618019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Platyspondyly, Thoracic platyspondyly, Kyphoscoliosis, Short neck, Beaking of vertebral bodies, T...	ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Posterior subcapsular cataract, Lumbar hyperlordosis, Biconcave vertebral bodies, ...	OMIM:271510
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Lumbar hyperlordosis, Short neck, Cervical subluxation, ...	OMIM:607095
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba...	ORPHA:508533
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea, Failure to thrive	OMIM:610913
Opitz-Kaveggia Syndrome	Fine hair, Facial wrinkling, Skin tags, Lumbar hyperlordosis, Frontal upsweep of hair, Short neck...	OMIM:305450
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies	ORPHA:3015
Q Fever	Respiratory distress, Weight loss, Purpura, Maculopapular exanthema	ORPHA:781
Pfeiffer Syndrome	Short neck, Hyperlordosis	ORPHA:710
Prolactinoma	Pallor	ORPHA:2965
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Saethre-Chotzen Syndrome	Abnormal form of the vertebral bodies, Low anterior hairline, Abnormal hair pattern, Hyperlordosi...	ORPHA:794
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Hypertrichosis, Psoriasiform dermatitis, Low posterior hairline, Hyperlordosis, Chronic oral cand...	ORPHA:221139
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Respiratory distress, Exertional dyspnea, Orthopnea, Hyperlordosis, Scoliosis	ORPHA:365
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair, Failure to thrive, Eczematoid dermatitis, Respiratory distress, Superficial dermal p...	ORPHA:83617
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Scoliosis, Hyperlordosis, Hypoventilation, Decreased body weight	ORPHA:258
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Scoliosis, Obesity, Anterior polar cataract	OMIM:250420
Desbuquois Dysplasia 2	Platyspondyly, Lumbar hyperlordosis, Short neck, Truncal obesity, Synophrys	OMIM:615777
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive	OMIM:251110
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Thick eyebrow, Hyperlordosis, Scoliosis, Kyphosis	OMIM:162300
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Failure to thrive	OMIM:251100
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Beaking of vertebral bodies	OMIM:215150
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Preauricular pit, Lumbar hyperlordosis	OMIM:602471
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Obesity, Hyperlordosis, Myopic astigmatism, Synophrys	OMIM:301066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Scoliosis, Hyperlordosis	OMIM:615356
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Japanese Encephalitis	Respiratory distress, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Atypical scarring of skin, Striae distensae, Apnea, Keratoconjunctivitis sicca, Subc...	ORPHA:285
Williams Syndrome	Megalocornea, Death in early adulthood, Overfriendliness, Posterior embryotoxon, Flat cornea, Abn...	ORPHA:904
Kasabach-Merritt Phenomenon	Hypopnea, Hypertrichosis, Respiratory distress, Petechiae, Purpura	ORPHA:2330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short neck, Sparse hair, Fine hair, Lumbar hyperlordosis	ORPHA:251028
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Lumbar hyperlordosis	OMIM:612813
Lacrimoauriculodentodigital Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun...	ORPHA:2363
Branchiooculofacial Syndrome	Dermoid cyst, Cataract, Atypical scarring of skin, Premature graying of hair, Supernumerary nippl...	OMIM:113620
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Petechiae, Ecchymosis, Decreased body weight, Dyspnea, Back pain	ORPHA:340
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Slender build, Lumbar hyperlordosis, Large for gestational age, Reduced social re...	ORPHA:457359
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Tuberous Sclerosis Complex	Epidermoid cyst, Respiratory distress, Confetti-like hypopigmented macules, Hypomelanotic macule,...	ORPHA:805
Brain-Lung-Thyroid Syndrome	Respiratory distress, Failure to thrive	ORPHA:209905
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Thoracolumbar scoliosis, Curly hair, Long eyelashes, Sacral dimple, Thoracic ...	OMIM:619503
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Large for gestational age, Hyperlordosis, Scoliosis, Kyphosis	OMIM:617011
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Short neck	ORPHA:171866
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Failure to thrive	ORPHA:17
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cataract, Apnea	OMIM:261740
Schinzel-Giedion Syndrome	Respiratory distress, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Generalized hyper...	ORPHA:798
Osteoglophonic Dysplasia	Respiratory distress, Short neck, Platyspondyly, Failure to thrive	OMIM:166250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Failure to thrive, Death in infancy	OMIM:617156
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Nasal flaring, Astigmatism, Synophrys	ORPHA:466943
Cocaine Intoxication	Respiratory distress, Hyperventilation, Tachypnea, Mydriasis	ORPHA:90068
Cleidocranial Dysplasia 1	Spondylolysis, Respiratory distress, Spondylolisthesis, Scoliosis, Kyphosis	OMIM:119600
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Failure to thrive, Breast aplasia	ORPHA:2554
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Failure to thrive	ORPHA:308552
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation	ORPHA:255210
8Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Naevus flammeus of the eyelid, Respiratory distress, Skin tags, Long eyela...	ORPHA:508488
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Pallor, Hyperlordosis, Kyphoscoliosis	ORPHA:653
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Leukocyte Adhesion Deficiency	Nail dystrophy, Perianal abscess, Pyoderma gangrenosum, Conjunctivitis, Recurrent skin infections...	ORPHA:2968
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse pubic hair, Abnormal eyebrow morphology, Lumbar hyperlordosis, B...	ORPHA:2232
Ehlers-Danlos Syndrome, Classic Type, 2	Atrophic scars, Subcutaneous spheroids, Molluscoid pseudotumors, Cigarette-paper scars	OMIM:130010
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Peters anomaly, Lumbar hyperlordosis, Broad eyebrow, Multiple cafe-au-lait spots, Scoliosis, Wido...	OMIM:616975
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Abnormal vertebral morphology	ORPHA:210122
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Choanal Atresia	Respiratory distress	ORPHA:137914
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cataract, Hypertrichosis, Respiratory distress, Astigmatism, Hypoplastic nipples, Thoracolumbar s...	ORPHA:480880
Arboleda-Tham Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Respiratory distress, Thin eyebrow, Astigmatism, Co...	OMIM:616268
Turnpenny-Fry Syndrome	Sparse scalp hair, Failure to thrive, Lumbar hyperlordosis, Melanocytic nevus, Decreased body wei...	OMIM:618371
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Failure to thrive, Hyperpigmented papule, Respiratory distress, Dry skin, Lumbar s...	ORPHA:99646
Colchicine Poisoning	Respiratory distress, Alopecia	ORPHA:31824
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Kyphoscoliosis, Weight loss, Hyperlordosis, Scoliosis	ORPHA:2020
Stiff-Person Syndrome	Lumbar hyperlordosis	OMIM:184850
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Failure to thrive	ORPHA:79282
Unilateral Polymicrogyria	Apnea, Abnormal posturing	ORPHA:268943
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Congenital Tracheomalacia	Intercostal retractions, Failure to thrive, Apnea, Cutis laxa, Dyspnea	ORPHA:95430
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Degcags Syndrome	Pallor	OMIM:619488
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Fanconi Anemia, Complementation Group C	Anemic pallor	OMIM:227645
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions, Failure to thrive	ORPHA:1329
Camurati-Engelmann Disease	Abnormality of the vertebral column, Slender build, Cachexia, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:1328
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Cigarette-paper scars, Melanocytic nevus, Abnormal pupil morphology, Redun...	ORPHA:286
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Sponastrime Dysplasia	Platyspondyly, Cataract, Abnormality of the vertebral column, Lumbar hyperlordosis, Biconcave ver...	ORPHA:93357
Distal 22Q11.2 Microdeletion Syndrome	Highly arched eyebrow, Hyperlordosis	ORPHA:261330
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cigarette-paper scars, Molluscoid pseudotumors, Alopecia of scalp, Ecchymosis, Derma...	OMIM:130050
Diamond-Blackfan Anemia 1	Pallor	OMIM:105650
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Highly arched eyebrow, Sparse eyebrow, Lumbar hyperlordosis, Intervertebral space narrowing, Narr...	OMIM:143095
Diamond-Blackfan Anemia	Pallor	ORPHA:124
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Doors Syndrome	Cataract, Respiratory distress, Low anterior hairline, Lumbar scoliosis, Hemivertebrae, Spina bif...	ORPHA:79500
Oculopharyngodistal Myopathy 1	Respiratory distress, Weight loss	OMIM:164310
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Block vertebrae, Absence of the sacrum, Failure to thrive	OMIM:306955
Ethylene Glycol Poisoning	Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Autosomal Recessive Malignant Osteopetrosis	Pallor	ORPHA:667
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Scoliosis, Sacral dimple	ORPHA:3206
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Spinal rigidity	ORPHA:268
Fanconi Anemia, Complementation Group D2	Anemic pallor	OMIM:227646
Cryptococcosis	Respiratory distress, Dyspnea	ORPHA:1546
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Short nail, Scoliosis, Ovoid vertebral bodies	OMIM:607778
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Sparse eyebrow, Fine hair, Respiratory distress, Nail dystrophy, Sparse eyelashes, Spar...	OMIM:614748
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight	OMIM:182210
Scimitar Syndrome	Respiratory distress, Abnormality of the vertebral column	ORPHA:185
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Lisch nodules, Macule, Hyperlordosis, Scoliosis, Cafe-au-lait spot	ORPHA:363700
Gitelman Syndrome	Respiratory distress, Failure to thrive	ORPHA:358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Small for gestational age, Failure to thrive	ORPHA:2255
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Failure to thrive in infancy, Lumbar hyperlordosis, Broad lateral eyebrow, Kyphos...	ORPHA:500150
Leptospirosis	Respiratory distress, Skin rash, Conjunctival hyperemia	ORPHA:509
Classical Ehlers-Danlos Syndrome	Abnormal cornea morphology, Cigarette-paper scars, Atrophic scars, Striae distensae, Molluscoid p...	ORPHA:287
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thick eyebrow, Hypoplastic sweat glands, Hyperlordosis, Abnormality of hair texture, Synophrys	ORPHA:73223
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea	ORPHA:141127
Iniencephaly	Absent vertebra, Hyperlordosis	ORPHA:63259
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Aplasia of the epiglottis	OMIM:617088
Goodpasture Syndrome	Pallor	OMIM:233450
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Ovoid thoracolumbar vertebrae	ORPHA:3404
Generalized Arterial Calcification Of Infancy	Respiratory distress, Failure to thrive in infancy, Fused cervical vertebrae	ORPHA:51608
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea	ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Pallor, Apneic episodes in infancy, Exertional dyspnea	ORPHA:99125
Alström Syndrome	Cataract, Posterior subcapsular cataract, Frontal balding, Fine hair, Respiratory distress, Obesi...	ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Pmm2-Cdg	Platyspondyly, Cataract, Failure to thrive, Respiratory distress, Kyphoscoliosis	ORPHA:79318
Microphthalmia, Syndromic 1	Microcornea, Lumbar hyperlordosis, Ciliary body coloboma, Kyphoscoliosis, Scoliosis, Iris coloboma	OMIM:309800

Histopathology

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

There is no histopathology data for Col5a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col5a2.

No publications found that use IMPC mice or data for Col5a2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Col5a2^{tm239743(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Col5a2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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