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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 (819 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		Subcutaneous spheroids, Cigarette-paper scars, Atrophic scars, Molluscoid pseudotumors, Recurrent...	OMIM:130010
Classical Ehlers-Danlos Syndrome		Subcutaneous spheroids, Piezogenic pedal papules, Cigarette-paper scars, Abnormal cornea morpholo...	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
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, At...	OMIM:603165
Brittle Cornea Syndrome 1	Keratoconus, Red hair, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Mollu...	OMIM:229200
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin pla...	ORPHA:2584
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Skin ulcer, Malar ra...	ORPHA:90280
Juvenile Hyaline Fibromatosis	Death in infancy, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, ...	ORPHA:2028
Non-Epidermolytic Palmoplantar Keratoderma	Papule, Erythema, Skin ulcer, Pruritus	ORPHA:2337
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis	ORPHA:2047
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer	ORPHA:231
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	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	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Acrogeria	Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin, Scoliosis	ORPHA:2500
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Death in adolescence, Stillbirth, Scoliosis, Neonatal death, Pulmon...	OMIM:619751
Lichen Planopilaris	Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Pterygium, Papule	ORPHA:525
Breath-Holding Spells	Pallor	OMIM:607578
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus	ORPHA:409
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis	OMIM:617404
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Reticular Dysgenesis	Failure to thrive, Skin rash, Skin ulcer, Weight loss	ORPHA:33355
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Keratitis, Skin ulcer, Scoliosis, Dystrophic fingernails, Dystrop...	ORPHA:1657
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Failure to th...	ORPHA:229717
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Skin rash, Recurrent pneumonia, Hypop...	ORPHA:47
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi...	OMIM:600561
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma, Skin ulcer, Weight loss	ORPHA:312
Prolidase Deficiency	Chronic lung disease, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Skin...	OMIM:170100
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Skin ulcer, Recurrent ...	ORPHA:217390
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Amyloidosis, Primary Localized Cutaneous, 2	Pruritus	OMIM:613955
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Emphysema, Chronic sinusitis	OMIM:604571
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Abnormal hair morphology, Pruritus, Skin ulcer, Scoliosis, Cough, Skin vesicle...	ORPHA:2314
Arthrogryposis, Distal, Type 5	Keratoconus, Reduced forced expiratory volume in one second, Kyphosis, Keratoglobus, Restrictive ...	OMIM:108145
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Optic Atrophy 1	Pallor	OMIM:165500
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Rigid Spine Syndrome	Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testing, Respiratory...	ORPHA:97244
Myosclerosis, Autosomal Recessive	Reduced forced vital capacity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity	OMIM:255600
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair, Microcornea, Keratoconjunctivit...	ORPHA:1806
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Recurrent skin infections, Chronic pulmonary obstruction, Pyoderma gangrenosum, Bronchi...	OMIM:616576
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura	ORPHA:743
Mucolipidosis Type Iii	Acne, Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Familial Multiple Nevi Flammei	Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Scoliosis, Nevus flammeus, Papule	ORPHA:624
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea...	OMIM:300718
Takayasu Arteritis	Subcutaneous nodule, Skin ulcer, Weight loss, Pulmonary arterial hypertension, Abnormal pattern o...	ORPHA:3287
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Failure to thrive, Pustule, Corneal erosion, Erythema, Ski...	ORPHA:37
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Leishmaniasis	Skin ulcer, Weight loss, Rhinitis, Pallor, Skin plaque, Papule	ORPHA:507
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Low anterior hairline, Hirsutism, Skin ulcer,...	ORPHA:742
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Skin ulcer, Iris hypopigmentation	ORPHA:834
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Ollier Disease	Platyspondyly, Subcutaneous nodule, Skin ulcer	ORPHA:296
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Dna2-Related Mitochondrial Dna Deletion Syndrome	Exertional dyspnea, Slender build, Hyperlordosis	ORPHA:352470
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Perching Syndrome	Respiratory distress, Scoliosis	OMIM:617055
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Scoliosis, Hyperlordosis	ORPHA:2310
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Cachexia, Spinal rigidity, Hyperlordosis, Respiratory insufficiency	ORPHA:157973
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Microtriplication 11Q24.1	Keratoconus, Short neck, Synophrys, Obesity, Long eyelashes, Scoliosis, Thick eyebrow	ORPHA:289522
Diastrophic Dysplasia	Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Ne...	OMIM:222600
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Short neck	ORPHA:1832
Retinitis Pigmentosa	Keratoconus, Cataract, Obesity, Atypical scarring of skin	ORPHA:791
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive, Scoliosis	OMIM:300934
Familial Anetoderma	Lumbar hyperlordosis, Papule	ORPHA:228277
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Reduced vital capacity, Hyperlordosis	OMIM:607088
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis	OMIM:619042
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity, Abnormal vertebral segmentation and fusion, Short...	OMIM:244600
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Cataract, Miscarriage, Abnormal hair whorl, La...	ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatism, Scoliosis	OMIM:615761
Buerger Disease	Skin ulcer	ORPHA:36258
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Hyperlordosis, Kyphosis, Obesity, Keloids, Dry skin	ORPHA:3085
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Skin ulcer, Interstitial pneumonitis, Dermal atro...	ORPHA:454831
Nemaline Myopathy 5C, Autosomal Dominant	Slender build, Respiratory insufficiency, Scoliosis, Hyperlordosis	OMIM:620389
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s...	OMIM:256050
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Respiratory insufficiency due to muscle weakness, Scoliosis, Hyperlordosis	OMIM:611067
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Skin ulcer, Weight loss	ORPHA:767
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer, Cough	ORPHA:36386
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
Incontinentia Pigmenti	Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Keratitis, Abnormal hair mo...	ORPHA:464
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Respiratory ins...	OMIM:161800
Reynolds Syndrome	Skin rash, Pruritus, Respiratory insufficiency, Skin ulcer, Keratoconjunctivitis sicca	ORPHA:779
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight	OMIM:300580
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura...	ORPHA:50251
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis	OMIM:616756
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Infantile Myofibromatosis	Abnormal hair morphology, Abnormal sacrum morphology, Subcutaneous nodule, Skin ulcer	ORPHA:2591
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis	OMIM:617977
Juvenile Dermatomyositis	Alopecia, Skin rash, Pruritus, Dyspnea, Erythema, Skin ulcer, Weight loss, Restrictive ventilator...	ORPHA:93672
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia ...	ORPHA:261304
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Pyoderma Gangrenosum	Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule	ORPHA:48104
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Restrictive ventilatory defect, Scoliosis, Hyperlordosis	OMIM:615290
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness, Pallor	OMIM:613561
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Localized skin lesion, Pleural effu...	ORPHA:3392
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Cataract, Kyphoscoliosis, Developmental glaucoma, Penetrating foot ulcers...	ORPHA:99956
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Pyoderma gangrenosum, Acne	OMIM:604416
Myasthenic Syndrome, Congenital, 5	Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord...	OMIM:603034
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Failure to thrive	OMIM:616974
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Weight loss, Keratoconjunctivitis, Perioral ec...	ORPHA:79242
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Beta-Thalassemia	Respiratory insufficiency, Pallor, Skin ulcer	ORPHA:848
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Dyspnea, Exertional dyspnea, Slender build, Hyperlordosis	OMIM:615156
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Keratoconjunctivitis, Dystroph...	ORPHA:2907
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Skin ulcer, Cough, Papule	ORPHA:1334
Toxic Epidermal Necrolysis	Macule, Respiratory distress, Corneal erosion, Erythema, Skin ulcer, Weight loss, Restrictive ven...	ORPHA:537
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough	ORPHA:86812
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Dystonia 31	Abnormal posturing	OMIM:619565
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Epistaxis, Skin ulcer	ORPHA:352723
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Failure to thrive	ORPHA:26792
Fusariosis	Sinusitis, Maculopapular exanthema, Pneumonia, Productive cough, Keratitis, Subcutaneous nodule, ...	ORPHA:228119
Myelofibrosis	Pallor, Purpura	OMIM:254450
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Myasthenic Syndrome, Congenital, 16	Apnea, Hyperlordosis	OMIM:614198
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skin dimple, Respiratory insufficiency due to muscle weakness, Scoliosis	ORPHA:1143
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Mulchandani-Bhoj-Conlin Syndrome	Hypermelanotic macule, Hyperlordosis, Cafe-au-lait spot, Scoliosis, Failure to thrive	OMIM:617352
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis	ORPHA:408
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Skin tags, Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Kyphosis, W...	OMIM:616482
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Scoliosis	OMIM:615042
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opa...	OMIM:256800
Congenital Myopathy 16	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	OMIM:618524
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous plaque, Erythematous papule, Skin ulcer, Weight loss	ORPHA:86884
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Granulomatosis With Polyangiitis	Sinusitis, Keratitis, Skin ulcer, Respiratory insufficiency, Weight loss, Conjunctivitis, Cough, ...	OMIM:608710
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Chronic oral candidiasis	OMIM:150550
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma	OMIM:252605
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Cataract, Hypermel...	ORPHA:1775
Nemaline Myopathy 2	Apnea, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Scoliosi...	OMIM:256030
Nemaline Myopathy 7	Respiratory insufficiency due to muscle weakness, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis	ORPHA:280333
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Erythema, Skin ulcer, Skin fissure, Sparse hair	ORPHA:659
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Irida Syndrome	Pallor	ORPHA:209981
Chronic Granulomatous Disease	Macule, Sinusitis, Hypermelanotic macule, Eczema, Chronic pulmonary obstruction, Skin ulcer	ORPHA:379
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Petechiae, Skin ulcer, Purpura	ORPHA:91138
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Reduced forced vital capacity, Respiratory insufficiency due to muscle weak...	OMIM:255310
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Frontal balding, Early balding, Bl...	ORPHA:3041
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Low posterior hairline, Scoliosis, Hyperlordosis	ORPHA:1387
Costello Syndrome	Keratoconus, Failure to thrive in infancy, Redundant skin, Short neck, Abnormal hair morphology, ...	ORPHA:3071
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis	ORPHA:363454
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Failure to thrive	OMIM:242150
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Pgm3-Cdg	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Recurrent pneumonia, Bronchiectasis...	ORPHA:443811
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Fine hair, Thin skin, ...	ORPHA:978
Hajdu-Cheney Syndrome	Failure to thrive, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys, L...	ORPHA:955
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
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Dyspnea, Microcornea, Respiratory failure, Thin eyebrow, Pr...	ORPHA:2707
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Schimke Immunoosseous Dysplasia	Macule, Lumbar hyperlordosis, Small for gestational age, Hypermelanotic macule, Ovoid vertebral b...	OMIM:242900
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Pallor, Scoliosis, Failure to thrive	ORPHA:536516
Giant Cell Arteritis	Alopecia, Epistaxis, Skin ulcer, Weight loss, Cough	ORPHA:397
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral endplates, Coronal cleft vertebrae, T...	OMIM:618363
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Acral ulceration	OMIM:162400
Microscopic Polyangiitis	Sinusitis, Skin rash, Epistaxis, Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:727
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Corneal p...	ORPHA:68
Diaphanospondylodysostosis	Respiratory distress, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve...	ORPHA:66637
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Upper airway obstruction, Pruritus	ORPHA:100057
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Cough...	ORPHA:556
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A...	ORPHA:542643
Succinic Acidemia	Respiratory distress	OMIM:600335
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, F...	OMIM:264180
Infantile Systemic Hyalinosis	Failure to thrive, Subcutaneous nodule, Skin ulcer, Short neck	ORPHA:2176
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S...	OMIM:606612
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Fine hair, ...	OMIM:616817
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Failure to thrive, Cataract, Scoliosis	ORPHA:544503
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Atopic dermatitis, Spotty hypopigmentation, Scoliosis, Cafe-au-lait spot	OMIM:619719
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Rhinitis, Pyoderma gangrenosum, Pneumonia	ORPHA:486
Ck Syndrome	Lumbar hyperlordosis, Slender build, Kyphoscoliosis	ORPHA:251383
Blau Syndrome	Cataract, Eczema, Band keratopathy, Erythema nodosum, Intermittent generalized erythematous papul...	OMIM:186580
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Cataract, Abnormal eyelash morphology, Abnormal hair morphology, Subcutaneous nodul...	ORPHA:2526
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Kyphosis, Dyspnea, Resp...	OMIM:211530
Chronic Graft Versus Host Disease	Alopecia, Dyspnea, Wheezing, Erythema, Pneumothorax, Intermittent generalized erythematous papula...	ORPHA:99921
Alagille Syndrome	Keratoconus, Failure to thrive, Corneal dystrophy, Abnormal pupil morphology, Abnormal form of th...	ORPHA:52
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Pulmonary arterial hypertension, Skin ulcer	ORPHA:220393
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	OMIM:237310
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Death in infancy, Cataract, Corneal opacity, Kyphosis, Abnormal pupil morpholo...	ORPHA:534
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Skin ulcer, Respirato...	ORPHA:221
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Odontochondrodysplasia	Respiratory distress, Death in infancy, Platyspondyly, Scoliosis	ORPHA:166272
Catastrophic Antiphospholipid Syndrome	Pulmonary arterial hypertension, Miscarriage, Skin ulcer, Pulmonary embolism	ORPHA:464343
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Leprosy	Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Epistaxis, Skin nodule, Loss o...	ORPHA:548
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Cutis laxa, Long eyelashes, ...	OMIM:619451
Systemic Sclerosis	Alopecia, Recurrent skin infections, Cutaneous sclerotic plaque, Digital pitting scar, Dyspnea, P...	ORPHA:90291
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Failure to thrive, Tachypnea, Abnormal posturing	OMIM:614857
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit...	ORPHA:95455
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Hyperlordosis	ORPHA:62
Gapo Syndrome	Keratoconus, Alopecia, Epidermoid cyst, Redundant skin, Sparse eyelashes, Sparse eyebrow, Wide an...	OMIM:230740
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Reduced vital capacity, Scoliosis, Hyperlordosis	OMIM:617760
Dominant Beta-Thalassemia	Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Malaria	Respiratory distress	ORPHA:673
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Death in childhood	OMIM:615597
Rodrigues Blindness	Sclerocornea, Nasal flaring, Fine hair, Microcornea, Sparse hair	OMIM:268320
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Pachyonychia Congenita	Respiratory distress, Alopecia, Epidermoid cyst, Nail dystrophy, Eruptive vellus hair cyst, Cutan...	ORPHA:2309
Myopathy, Centronuclear, 2	Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of...	OMIM:313400
Hypochondroplasia	Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:429
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough	ORPHA:142
Elliptocytosis 1	Pallor	OMIM:611804
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E...	ORPHA:3243
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Schwartz-Jampel Syndrome, Type 1	Lumbar hyperlordosis, Cataract, Cervical kyphosis, Kyphoscoliosis, Short neck, Microcornea, Coron...	OMIM:255800
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis	ORPHA:206546
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anteri...	OMIM:314580
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Large for gestational age	ORPHA:45452
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory...	OMIM:607155
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Gapo Syndrome	Keratoconus, Skin tags, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented ...	ORPHA:2067
Angelman Syndrome	Keratoconus, Obesity, Astigmatism, Inappropriate laughter, Scoliosis, Fair hair, Iris hypopigment...	ORPHA:72
Three M Syndrome 1	Neonatal respiratory distress, Small for gestational age, Hyperlordosis, Short neck, Increased ve...	OMIM:273750
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Wiskott-Aldrich Syndrome	Sinusitis, Epistaxis, Eczema, Keratitis, Dyspnea, Chronic pulmonary obstruction, Skin ulcer, Conj...	ORPHA:906
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ...	ORPHA:2759
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic fingernails, Dystrophic toenail, Hyperlordosis	ORPHA:970
Granulomatosis With Polyangiitis	Sinusitis, Skin rash, Epistaxis, Chronic pulmonary obstruction, Skin ulcer, Respiratory insuffici...	ORPHA:900
Craniofaciofrontodigital Syndrome	Respiratory distress, Thick hair, Large for gestational age, Dyspnea, Low anterior hairline, Cuti...	ORPHA:363705
Cushing Disease	Sparse scalp hair, Acne, Hirsutism, Increased body weight, Skin ulcer, Recurrent cutaneous fungal...	ORPHA:96253
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Biconvex vertebral bodies, Coronal cleft vertebrae, Platy...	OMIM:184260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hyperlordosis, Restrictive ventilatory defect, Distichiasis, Pallor, Failure to thrive	OMIM:600462
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin ...	OMIM:151210
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age	OMIM:616733
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ...	ORPHA:99642
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Immunoglobulin A Vasculitis	Macule, Skin rash, Pustule, Erythema, Skin ulcer, Restrictive ventilatory defect, Purpura	ORPHA:761
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Failure to thrive	OMIM:619542
Desbuquois Dysplasia 1	Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesi...	OMIM:251450
Oculoskeletodental Syndrome	Hyperlordosis, Developmental cataract, Abnormality of the frontal hairline, Thoracic kyphosis, Sc...	ORPHA:557003
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Nail-Patella Syndrome	Keratoconus, Back pain, Cataract, Lumbar hyperlordosis, Antecubital pterygium, Microcornea, Micro...	OMIM:161200
Congenital Heart Block	Pallor	ORPHA:60041
Familial Keratoacanthoma	Papule, Subcutaneous nodule, Skin ulcer	ORPHA:493
Dravet Syndrome	Pallor	ORPHA:33069
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Hyperlordosis, Scoliosis, Shagreen patch	ORPHA:2511
Arterial Tortuosity Syndrome	Keratoconus, Respiratory distress, Redundant skin, Dyspnea, Cardiorespiratory arrest, Keratoglobu...	ORPHA:3342
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kypho...	OMIM:253010
Gm1 Gangliosidosis	Corneal opacity, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Weight loss, Pla...	ORPHA:354
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low anterior hairline, As...	OMIM:617796
Kniest Dysplasia	Respiratory distress, Cataract, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphos...	OMIM:156550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Respiratory insufficiency, Scoliosis, Hyperlordosis	OMIM:613156
Myopathy, Distal, 1	Lumbar hyperlordosis, Scoliosis	OMIM:160500
Beta-Thalassemia Major	Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Nail dystrophy, Corneal pterygium, Symblepharon, Skin ulcer	OMIM:245660
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Cataract, Weakness of muscles of respiration, Hyperlordosis	ORPHA:52430
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Blau Syndrome	Cataract, Skin rash, Keratitis, Dyspnea, Erythema nodosum, Erythema, Skin ulcer, Pulmonary arteri...	ORPHA:90340
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency, Kyphoscoliosis	ORPHA:1145
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Pallor, Skin ulcer	ORPHA:231222
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis	OMIM:128100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Cold Agglutinin Disease	Pallor	ORPHA:56425
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Myotonic Dystrophy 1	Respiratory distress, Cataract, Frontal balding	OMIM:160900
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Papule	ORPHA:411777
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Kyphoscoliosis, Recurrent pneumonia, Respiratory insufficiency, Microcornea, Excessi...	OMIM:225400
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Synophrys, Obesity, Scolios...	OMIM:618443
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Hyperlordosis	ORPHA:267
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Scoliosis	ORPHA:37612
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Dyspnea, Lumbar hyperlordosis	ORPHA:435387
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Repeated...	ORPHA:536467
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Skin ulcer, Pulmonary arterial hyper...	ORPHA:2072
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal hai...	ORPHA:79474
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Thoracomelic Dysplasia	Hyperlordosis, Low posterior hairline, Short neck	ORPHA:1803
Nasolacrimal Duct Cyst	Intercostal retractions, Chronic irritative conjunctivitis, Corneal astigmatism, Episodic respira...	ORPHA:141083
Hereditary Spherocytosis	Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Primary Sjögren Syndrome	Lymphocytic interstitial pneumonia, Erythema nodosum, Nonproductive cough, Skin ulcer, Airway obs...	ORPHA:289390
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Failure to thrive	OMIM:608799
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Ramos-Arroyo Syndrome	Respiratory distress, Sparse scalp hair, Shoulder dimple, Keratitis, Decreased body weight, Sever...	ORPHA:1051
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Spinal rigidity	OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis	OMIM:618129
Myotonia Permanens	Dyspnea, Asthma, Hyperlordosis	ORPHA:99735
Three M Syndrome 3	Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ...	OMIM:614205
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to...	ORPHA:98863
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Spinal canal stenosis, Obesity, Hypoxemia...	ORPHA:15
Chime Syndrome	Corneal opacity, Erythema, Skin ulcer, Fine hair, Sparse hair	ORPHA:3474
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Scoliosis, Noctu...	ORPHA:171436
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Kyphoscoliosis	ORPHA:98805
Warburg-Cinotti Syndrome	Symblepharon, Erythema, Pneumothorax, Limbal stem cell deficiency, Thin skin, Decreased corneal t...	OMIM:618175
Tetrasomy 5P	Preauricular pit, Respiratory distress, Redundant neck skin, Short neck, Wide anterior fontanel, ...	ORPHA:3309
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Recurrent sinusitis, Purpura	OMIM:615688
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Failure to thrive	ORPHA:79312
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Failure to thrive, Low anterior hairline, Scoliosis	ORPHA:329178
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Stt3B-Cdg	Respiratory distress, Failure to thrive	ORPHA:370924
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Schwartz-Jampel Syndrome	Apnea, Short neck, Low anterior hairline, Microcornea, Generalized hirsutism, Death in infancy, A...	ORPHA:800
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis	OMIM:181405
Myasthenic Syndrome, Congenital, 14	Scoliosis, Hyperlordosis	OMIM:616228
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Dry skin, Large for gestational age	ORPHA:226313
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ...	OMIM:169550
Amyotrophic Lateral Sclerosis 27, Juvenile	Respiratory insufficiency, Scoliosis, Hyperlordosis	OMIM:620285
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Wide anterior fontanel, Respiratory distress, Developmental cataract	OMIM:231680
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:98853
Plague	Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer...	ORPHA:707
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis	OMIM:167320
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis	ORPHA:1192
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Tay-Sachs Disease	Pallor	OMIM:272800
Isolated Atp Synthase Deficiency	Respiratory distress, Cataract	ORPHA:254913
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Restrictive ventilatory defect, Cataract, Hyperlordosis	ORPHA:369840
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Respiratory distress	OMIM:300219
Farber Disease	Respiratory distress, Corneal opacity, Respiratory insufficiency, Abnormal conjunctiva morphology...	ORPHA:333
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Failure to thrive, Corneal scarring, Acral ulceration, Recurrent corneal er...	OMIM:256810
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Corneal opacity, Hypermelanotic macule, Ovoid vertebral bodies, Short neck,...	ORPHA:1830
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ...	ORPHA:750
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Generalized hypertrichosis, Failure to thrive, Short neck	ORPHA:50810
Mucopolysaccharidosis Type 4	Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoli...	ORPHA:582
Microphthalmia, Lenz Type	Cataract, Hyperlordosis, Kyphosis, Microcornea, Scoliosis, Preauricular skin tag, Iris coloboma	ORPHA:568
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Tracheomalacia, Hyperlo...	OMIM:234100
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Cataract, Astigmatism, Scoliosis, Unilateral breast hypoplas...	OMIM:300968
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Thick eyebrow, Scoliosis, Facial hirsutism	OMIM:619383
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis	OMIM:613818
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis	OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	ORPHA:927
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc...	ORPHA:93352
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,...	ORPHA:1159
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Vernal Keratoconjunctivitis	Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tuft...	ORPHA:573278
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation	OMIM:184250
Arterial Tortuosity Syndrome	Keratoconus, Cutis laxa, Astigmatism, Thin skin, Scoliosis	OMIM:208050
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Carnitine Deficiency, Systemic Primary	Respiratory distress, Failure to thrive	OMIM:212140
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Decreased body weight, Neonatal death, Petechiae, Purpura	OMIM:608013
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Scoliosis, Hyperlordosis	OMIM:253700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,...	ORPHA:26793
Fucosidosis	Cervical platyspondyly, Thick eyebrow, Lumbar hyperlordosis, Failure to thrive, Ovoid vertebral b...	OMIM:230000
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis	ORPHA:98855
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Abse...	OMIM:305100
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Failure to thrive, Scoliosis, Hyperlordosis	OMIM:300986
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky...	OMIM:100800
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Hypopigmentation of hair, Short neck, Obesity, Abnormal social behavior, Sc...	ORPHA:177907
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Skin ero...	ORPHA:79404
American Trypanosomiasis	Pallor	ORPHA:3386
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly verte...	OMIM:618870
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Failure to thrive in infancy, Skin rash, Pustule, Fused cervical vertebrae	OMIM:612852
Myopathy, Centronuclear, 1	Hyperlordosis	OMIM:160150
Coccidioidomycosis	Urticarial plaque, Respiratory distress, Skin rash, Pneumonia, Indurated nodule, Morbilliform ras...	ORPHA:228123
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Synophrys, Recurrent pneumonia, Low anterior hairline, Low post...	OMIM:617303
Frontorhiny	Lumbar hyperlordosis, Cataract, Widow's peak, Dermoid cyst, Scoliosis, Preauricular skin tag, Iri...	ORPHA:391474
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Parkes Weber Syndrome	Back pain, Skin ulcer, Erythematous plaque, Capillary malformation, Scaling skin	ORPHA:90307
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis	OMIM:165800
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low posterior hairlin...	ORPHA:2789
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Subcu...	ORPHA:31204
Tetanus	Respiratory distress, Localized skin lesion, Tachypnea	ORPHA:3299
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive	OMIM:618201
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Alopecia, Psoriasiform dermatitis, Failure to thrive in infancy, Pneumonia,...	ORPHA:37042
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis, Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Recurrent pneumonia, Failure to thrive, Butterfl...	OMIM:607143
3Mc Syndrome	Highly arched eyebrow, Hyperlordosis, Supernumerary nipple, Spina bifida occulta, Prominent coccy...	ORPHA:293843
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Acral ulceration	OMIM:608654
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Hyperlordosis	ORPHA:269
Letterer-Siwe Disease	Pallor	OMIM:246400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Thick hair, Short neck, Airway obstruction, Lumbar ky...	ORPHA:505248
Moebius Syndrome	Respiratory distress, Short neck	OMIM:157900
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Hyperlordosis, Synophrys, Obesity, Astigmatism, Nevus flammeus, Hirsutism	OMIM:616078
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis	OMIM:162370
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Childhood-onset truncal obes...	OMIM:216550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal stenosis, Coronal cleft...	OMIM:616007
Infantile Krabbe Disease	Respiratory distress, Cachexia, Hypopigmented skin patches, Respiratory failure, Failure to thrive	ORPHA:206436
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra...	ORPHA:1427
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive ventilatory...	ORPHA:26791
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Hyperlordosis	OMIM:619980
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Acne, Hirsutism, Increased body weight, Skin ulcer, Weight loss, Recurrent cut...	ORPHA:99889
Joubert Syndrome 37	Sparse hair, Lumbar hyperlordosis, Obesity	OMIM:619185
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck	OMIM:612921
Biotinidase Deficiency	Respiratory distress, Alopecia, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperven...	ORPHA:79241
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Recurrent pneumonia, Platyspondyly, Scoliosis, Death in...	OMIM:613848
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l...	ORPHA:314655
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Failure to thrive	OMIM:615595
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Short neck, Wide anteri...	OMIM:217980
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Low posterior hairline, Scoliosis, Hyperlordosis	ORPHA:1323
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Skin rash, Pneumonia, Recurrent skin infections, Localized skin ...	ORPHA:36234
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Sacral dimple, Numerous nevi, Fair hair, Alopecia, Tracheomalacia, Hyperlordosi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Sacral dimple, Numerous nevi, Fair hair, Alopecia, Tracheomalacia, Hyperlordosi...	ORPHA:363958
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Episodic respirato...	ORPHA:1199
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Sudden episodic apnea, Kyphoscoliosis, Spinal rigidity, Intermitt...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Sudden episodic apnea, Kyphoscoliosis, Spinal rigidity, Intermitt...	ORPHA:98914
Jansen-De Vries Syndrome	Hyperlordosis	OMIM:617450
Mogs-Cdg	Respiratory distress, Hypoventilation, Alopecia, Thoracic scoliosis, Apnea, Long eyelashes, Fair ...	ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Mgat2-Cdg	Respiratory distress, Kyphosis, Long eyelashes, Hypoplastic nipples, Scoliosis, Failure to thrive...	ORPHA:79329
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Lumbar hyperlordosis	OMIM:615980
Vici Syndrome	Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Chronic mucocutaneous candidiasis,...	OMIM:242840
Sepsis In Premature Infants	Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi...	ORPHA:90051
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Dystrophic toenail, Nail dystrophy, Sp...	ORPHA:3253
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Inflammatory abnormality of the skin, Eczema, Pulmonary embolism, Pruritus,...	ORPHA:3260
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Skin ulcer	OMIM:116920
Adnp Syndrome	Respiratory distress, Sparse scalp hair, High anterior hairline, Truncal obesity, Astigmatism, Im...	ORPHA:404448
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Respiratory distress, Thoracic scoliosis, Neonatal respirator...	OMIM:114290
Autosomal Recessive Centronuclear Myopathy	Respiratory insufficiency, Hyperlordosis	ORPHA:169186
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Cataract, Block vertebrae, Short neck, Hyperlordosis, Hypoplasia of the odontoi...	OMIM:272460
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick eyebrow	ORPHA:2616
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis, Sparse hair	ORPHA:77258
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Aplasia/Hypoplasia of the skin, Corneal opacity, Failure to ...	ORPHA:2556
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m...	ORPHA:174
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral bodies, Microco...	ORPHA:2839
Bethlem Myopathy	Hypoventilation, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Spinal rigidity, Ciga...	ORPHA:610
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Pneumonia, Increased intervertebral ...	OMIM:607944
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Pallor, Thin eyebrow, Aspiration, Failure to thrive, Mydriasis	ORPHA:2131
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Redundant neck skin, Supernumerary nipple	ORPHA:2519
Osteopathia Striata-Cranial Sclerosis Syndrome	Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis	ORPHA:2780
Lipodystrophy, Congenital Generalized, Type 4	Spinal rigidity, Hyperlordosis, Recurrent pneumonia, Scoliosis, Failure to thrive, Hirsutism	OMIM:613327
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Failure to thrive, Respiratory insufficiency	ORPHA:367
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Stridor, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:763
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lumbar hyperlordosis, Lens luxation, Ectopia lentis, Microspherophakia, L...	OMIM:608328
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes...	OMIM:602875
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cataract, Zonular cataract, Recurrent pneumonia	OMIM:616271
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Smith-Mccort Dysplasia 2	Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight	OMIM:615222
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Simple Cryoglobulinemia	Localized skin lesion, Weight loss, Acral ulceration, Purpura	ORPHA:91139
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Hyperlordosis, Leukonychia, Fine hair, Scoliosis, Thin eyebrow, Sparse hair, S...	OMIM:190350
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Reduced forced expir...	OMIM:613385
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Cataract, Low anterior hairline, Developmental cataract...	OMIM:212720
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Lumbar hyperlordosis, Posterior subcapsular cataract, Lumbar kyphosis, Astigmatism	OMIM:619234
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi...	ORPHA:258
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Acne, Hirsutism, Breast hypoplasia, Dystrophic t...	ORPHA:1439
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Failure to thrive	OMIM:251000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Scoliosis	ORPHA:353
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai...	ORPHA:3015
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Scoliosis	ORPHA:353327
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hyperlordosis	OMIM:611588
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Small for gestational age, Hemivertebrae, Long eyelashes,...	OMIM:224690
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterio...	OMIM:253200
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Distal Deletion 10Q	Failure to thrive, Lumbar hyperlordosis, Widow's peak, Astigmatism, Spina bifida occulta	ORPHA:96148
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Sacral dimple, Biconvex vertebral bodies, Hyperlordosis, Short nec...	ORPHA:175
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Rhinitis...	ORPHA:319213
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Alexander Disease	Hyperlordosis, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, Hyperpigmented nevi, F...	ORPHA:58
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis	OMIM:617821
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro...	OMIM:602557
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis	ORPHA:3130
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis	OMIM:114300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Respiratory distress, Low posterior hairline	OMIM:606164
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Hyperlordosis	ORPHA:3068
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Limbal edema, Inspiratory stridor	ORPHA:100050
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation	ORPHA:171881
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respiratory insufficiency due to muscle weakness, Wei...	ORPHA:2020
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Hypertrichosis	OMIM:271225
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Spinal rigidity, Short neck, Synophrys, Scoliosis, Pleu...	OMIM:620369
Waldenström Macroglobulinemia	Pallor, Purpura	ORPHA:33226
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Small for gestational age, Ovoid vertebral b...	OMIM:260400
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Aregenerative Anemia	Pallor	ORPHA:101096
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Listeriosis	Back pain, Respiratory distress, Unusual skin infection, Miscarriage, Pneumonia, Pustule, Intermi...	ORPHA:533
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Q Fever	Respiratory distress, Maculopapular exanthema, Pneumonia, Weight loss, Cough, Pleural effusion, P...	ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Thoracic kyphosis, Scoliosis, Spinal rigidity	OMIM:617114
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Hyperlordosis, Low posterior hairline, Ch...	ORPHA:221139
Mucopolysaccharidosis, Type X	Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver...	OMIM:619698
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion, Skin rash	ORPHA:292
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Hyperlordosis, Scoliosis, Short neck	OMIM:615065
Adenohypophysitis	Pallor	ORPHA:95512
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Sparse eyelashes, Respiratory distress, Low posterior hairline	OMIM:612863
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Laryngotracheomalacia, Plat...	OMIM:271510
Desbuquois Dysplasia 2	Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Synophrys, Truncal obesity, Plat...	OMIM:615777
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Subcutaneous nodule, Melanocytic nevus	ORPHA:1555
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Preauricular pit, Neonatal respiratory distress, Lumbar hyperlordosis	OMIM:602471
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract, Lumbar hyperlordosis	ORPHA:2848
Panhypophysitis	Pallor	ORPHA:95513
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Cataract, Ectopia lentis, Microspherophakia, Spinal canal stenosis, Shallow...	OMIM:277600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Preauricular pit, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplate...	OMIM:226980
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Bronchospasm, Short neck	OMIM:612813
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Corneal opacity, Scoliosis, Decreased body weight, Corneal ulceration	OMIM:615273
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia...	OMIM:250250
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Beare-Stevenson Cutis Gyrata Syndrome	Skin tags, Preauricular pit, Respiratory distress, Redundant neck skin, Palmoplantar cutis laxa	OMIM:123790
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy...	ORPHA:340
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Abnormal respiratory system physiology, Short neck	ORPHA:171866
Rubinstein-Taybi Syndrome 1	Respiratory distress, Broad eyebrow, Thick eyebrow, Cataract, Failure to thrive, Small for gestat...	OMIM:180849
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Pituitary Apoplexy	Pallor	ORPHA:95613
Chromosome 10Q26 Deletion Syndrome	Lumbar hyperlordosis, Small for gestational age, Low posterior hairline, Short neck	OMIM:609625
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Abnormal iris pigmentation, Antecubital pterygium, Primary conge...	ORPHA:2614
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Lumbar hyperlordosis, Abnormal location of the eyebrow, Widow's peak, Dermoid cyst...	ORPHA:522077
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Recurrent pneumonia, Coronal cleft vertebrae, Platyspondyly, Beaking of ver...	OMIM:215150
Helsmoortel-Van Der Aa Syndrome	Hyperlordosis, Obesity, Truncal obesity, Astigmatism, Thin skin, Scoliosis, Impaired social inter...	OMIM:615873
Auriculocondylar Syndrome	Respiratory distress, Preauricular skin tag, Periauricular skin pits	ORPHA:137888
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Beaki...	OMIM:619636
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Preauricular skin tag	OMIM:610536
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Sacral dimple, Failure to thrive, Hyperlordosis, Short neck, Low anterior hairline, E...	OMIM:619950
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy...	ORPHA:457395
Prolactinoma	Pallor	ORPHA:2965
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Hemothorax, Ciga...	OMIM:130050
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Atlanto...	OMIM:607095
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Lumbar hyperlordosis, Facial wrinkling, Short neck, Wide anterior fonta...	OMIM:305450
Saethre-Chotzen Syndrome	Abnormal hair pattern, Hyperlordosis, Low anterior hairline, Abnormal form of the vertebral bodie...	ORPHA:794
Fumarase Deficiency	Pallor	OMIM:606812
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic...	ORPHA:83617
Pfeiffer Syndrome	Hyperlordosis, Short neck	ORPHA:710
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive	OMIM:251110
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Leukocyte Adhesion Deficiency	Sinusitis, Recurrent skin infections, Pneumonia, Lymphocytic interstitial pneumonia, Perianal abs...	ORPHA:2968
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Thick eyebrow	OMIM:162300
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Apnea, Subcutaneous nodule, Atypical scarring of skin, Keratoconjunctivitis sicca, T...	ORPHA:285
Cocaine Intoxication	Respiratory distress, Mydriasis, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Anterior polar cataract, Obesity, Scoliosis	OMIM:250420
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Myopic astigmatism, Obesity, Synophrys, Hyperlordosis	OMIM:301066
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Failure to thrive	OMIM:251100
Tuberous Sclerosis Complex	Respiratory distress, Epidermoid cyst, Abnormal social behavior, Respiratory failure, Confetti-li...	ORPHA:805
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Synophrys, Facial erythema, Scaling skin, Aspiration, Thoracic hypertrichosis, Few cafe-au...	OMIM:619503
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Scoliosis, Hyperlordosis	OMIM:615356
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Kasabach-Merritt Syndrome	Respiratory distress, Purpura, Hypopnea, Petechiae, Hypertrichosis	ORPHA:2330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Lumbar hyperlordosis, Fine hair, Short neck	ORPHA:251028
Ehlers-Danlos Syndrome, Classic Type, 2	Subcutaneous spheroids, Cigarette-paper scars, Atrophic scars, Molluscoid pseudotumors, Recurrent...	OMIM:130010
Branchiooculofacial Syndrome	Preauricular pit, Cataract, Supernumerary nipple, Short neck, Hyperlordosis, Kyphosis, Lower lip ...	OMIM:113620
Williams Syndrome	Redundant skin, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Megalocorne...	ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Impair...	ORPHA:457359
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Shor...	ORPHA:798
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Synophrys, Nasal flaring, Obesity, Astigmatism	ORPHA:466943
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia, Failure to thrive	ORPHA:2554
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo...	OMIM:119600
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis	OMIM:617011
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cataract, Apnea	OMIM:261740
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Failure to thrive, Apnea	ORPHA:17
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Failure to thrive	OMIM:617156
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology	ORPHA:210122
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Pulmonary embolism	ORPHA:79282
Colchicine Poisoning	Respiratory distress, Alopecia, Cardiorespiratory arrest	ORPHA:31824
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Osteoglophonic Dysplasia	Respiratory distress, Platyspondyly, Failure to thrive, Short neck	OMIM:166250
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Highly arched eyebrow, Astigmatism, Conjunct...	OMIM:616268
Vascular Ehlers-Danlos Syndrome	Keratoconus, Macule, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morp...	ORPHA:286
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
8Q24.3 Microdeletion Syndrome	Skin tags, Respiratory distress, Thoracic scoliosis, Small for gestational age, Highly arched eye...	ORPHA:508488
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Pallor, Prominent corneal nerve fibers, Hyperlordosis	ORPHA:653
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Failure to thrive, Short neck, Hyperpigmented papule, Recurrent pneumonia, ...	ORPHA:99646
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation	ORPHA:255210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Widow's peak, Scoliosis, Peters anomaly, Multiple cafe-au-lait spots, Broad...	OMIM:616975
Scimitar Syndrome	Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria...	ORPHA:185
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ...	ORPHA:2232
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Curly hair, Sacral dimple, Cataract, Thoracolumbar scoliosis, Astigmatism, ...	ORPHA:480880
Unilateral Polymicrogyria	Abnormal posturing, Apnea, Epistaxis	ORPHA:268943
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ...	OMIM:614748
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow...	OMIM:143095
Sponastrime Dysplasia	Lumbar hyperlordosis, Cataract, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, H...	ORPHA:93357
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Stiff-Person Syndrome	Lumbar hyperlordosis	OMIM:184850
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Numerous nevi, Lumbar hyperlordosis, Sparse scalp hair, Wide anterior fo...	OMIM:618371
Fanconi Anemia, Complementation Group C	Anemic pallor	OMIM:227645
Degcags Syndrome	Pallor	OMIM:619488
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Stüve-Wiedemann Syndrome	Respiratory distress, Sacral dimple, Apnea, Asthma, Scoliosis	ORPHA:3206
Camurati-Engelmann Disease	Cachexia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis, Slender build	ORPHA:1328
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Doors Syndrome	Respiratory distress, Cataract, Hemivertebrae, Low anterior hairline, Lumbar scoliosis, Aspiratio...	ORPHA:79500
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Diamond-Blackfan Anemia 1	Pallor	OMIM:105650
Distal 22Q11.2 Microdeletion Syndrome	Highly arched eyebrow, Hyperlordosis	ORPHA:261330
Diamond-Blackfan Anemia	Pallor	ORPHA:124
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Autosomal Recessive Malignant Osteopetrosis	Pallor	ORPHA:667
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Fanconi Anemia, Complementation Group D2	Anemic pallor	OMIM:227646
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Hyperlordosis	ORPHA:268
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Failure to thrive, Block vertebrae	OMIM:306955
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Macule, Sinusitis, Kyphoscoliosis, Hyperlordosis, Scoliosis, Lisch nodules, Cafe-au-lait spot	ORPHA:363700
Acrocapitofemoral Dysplasia	Short nail, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:607778
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Gitelman Syndrome	Respiratory distress, Failure to thrive	ORPHA:358
Leptospirosis	Respiratory distress, Skin rash, Cough, Pleural effusion, Conjunctival hyperemia	ORPHA:509
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sparse eyebrow, H...	ORPHA:500150
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, Failure to thrive, Small for gestational age	ORPHA:2255
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Classical Ehlers-Danlos Syndrome	Subcutaneous spheroids, Piezogenic pedal papules, Cigarette-paper scars, Abnormal cornea morpholo...	ORPHA:287
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands, Thick eyebrow	ORPHA:73223
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failure	ORPHA:3404
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Aplasia of the epiglottis	OMIM:617088
Iniencephaly	Absent vertebra, Hyperlordosis	ORPHA:63259
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Goodpasture Syndrome	Pallor	OMIM:233450
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Cataract, Frontal balding, Kyphosis, Posterior subcapsu...	ORPHA:64
Generalized Arterial Calcification Of Infancy	Respiratory distress, Fused cervical vertebrae, Failure to thrive in infancy, Pulmonary arterial ...	ORPHA:51608
Pmm2-Cdg	Respiratory distress, Cataract, Kyphoscoliosis, Platyspondyly, Aspiration pneumonia, Failure to t...	ORPHA:79318
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Kyphoscoliosis, Microcornea, Ciliary body coloboma, 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.

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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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