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HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。
Growth delay
HP:0001510
對應病歷用詞(4)
- 生長遲緩權重 0.85已確認
- poor growth權重 0.8已確認
- 長不高權重 0.7已確認
- 身高成長變慢權重 0.6待審核
具此 HPO 的疾病（附加參考）(291)
- Ring chromosome 12 syndromeORPHA:1439 · Obligate (100%)
- SERKAL syndromeORPHA:139466 · Obligate (100%)
- 19q13.11 microdeletion syndromeORPHA:217346 · Very frequent (99-80%)
- 1q41q42 microdeletion syndromeORPHA:250999 · Very frequent (99-80%)
- 20q13.33 microdeletion syndromeORPHA:261311 · Very frequent (99-80%)
- 2p21 microdeletion syndromeORPHA:163693 · Very frequent (99-80%)
- 4q21 microdeletion syndromeORPHA:238750 · Very frequent (99-80%)
- 5q35 microduplication syndromeORPHA:228415 · Very frequent (99-80%)
- Achalasia-microcephaly syndromeORPHA:929 · Very frequent (99-80%)
- Alobar holoprosencephalyORPHA:93925 · Very frequent (99-80%)
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndromeORPHA:1071 · Very frequent (99-80%)
- Aromatase deficiencyORPHA:91 · Very frequent (99-80%)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formORPHA:89842 · Very frequent (99-80%)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formORPHA:79408 · Very frequent (99-80%)
- Autosomal recessive hypophosphatemic ricketsORPHA:289176 · Very frequent (99-80%)
- Autosomal recessive malignant osteopetrosisORPHA:667 · Very frequent (99-80%)
- Autosomal recessive primary microcephalyORPHA:2512 · Very frequent (99-80%)
- Axial spondylometaphyseal dysplasiaORPHA:168549 · Very frequent (99-80%)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeORPHA:75496 · Very frequent (99-80%)
- Baller-Gerold syndromeORPHA:1225 · Very frequent (99-80%)
- Baraitser-Winter cerebrofrontofacial syndromeORPHA:2995 · Very frequent (99-80%)
- Bloom syndromeORPHA:125 · Very frequent (99-80%)
- BRESEK syndromeORPHA:85284 · Very frequent (99-80%)
- Cardiocranial syndrome, Pfeiffer typeORPHA:2872 · Very frequent (99-80%)
- Cernunnos-XLF deficiencyORPHA:169079 · Very frequent (99-80%)
- Cockayne syndromeORPHA:191 · Very frequent (99-80%)
- DesmosterolosisORPHA:35107 · Very frequent (99-80%)
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionORPHA:1617 · Very frequent (99-80%)
- Dilated cardiomyopathy with ataxiaORPHA:66634 · Very frequent (99-80%)
- Ear-patella-short stature syndromeORPHA:2554 · Very frequent (99-80%)
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeORPHA:496641 · Very frequent (99-80%)
- Familial dysautonomiaORPHA:1764 · Very frequent (99-80%)
- FOXG1 syndrome due to 14q12 microdeletionORPHA:261144 · Very frequent (99-80%)
- Freeman-Sheldon syndromeORPHA:2053 · Very frequent (99-80%)
- Galactose epimerase deficiencyORPHA:79238 · Very frequent (99-80%)
- Gaucher disease type 1ORPHA:77259 · Very frequent (99-80%)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IbORPHA:79259 · Very frequent (99-80%)
- Growth delay due to insulin-like growth factor I resistanceORPHA:73273 · Very frequent (99-80%)
- Growth delay-intellectual disability-hepatopathy syndromeORPHA:541423 · Very frequent (99-80%)
- Holocarboxylase synthetase deficiencyORPHA:79242 · Very frequent (99-80%)
- Hypohidrotic ectodermal dysplasia with immunodeficiencyORPHA:98813 · Very frequent (99-80%)
- Hypotonia-cystinuria syndromeORPHA:163690 · Very frequent (99-80%)
- Infantile nephropathic cystinosisORPHA:411629 · Very frequent (99-80%)
- Infantile systemic hyalinosisORPHA:2176 · Very frequent (99-80%)
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeORPHA:1495 · Very frequent (99-80%)
- Jacobsen syndromeORPHA:2308 · Very frequent (99-80%)
- LIG4 syndromeORPHA:99812 · Very frequent (99-80%)
- Marden-Walker syndromeORPHA:2461 · Very frequent (99-80%)
- MEHMO syndromeORPHA:85282 · Very frequent (99-80%)
- Microcephaly-microcornea syndrome, Seemanova typeORPHA:2528 · Very frequent (99-80%)
- Microgastria-limb reduction defect syndromeORPHA:2538 · Very frequent (99-80%)
- Midline interhemispheric variant of holoprosencephalyORPHA:93926 · Very frequent (99-80%)
- Miller-Dieker syndromeORPHA:531 · Very frequent (99-80%)
- Monosomy 13q34 syndromeORPHA:96168 · Very frequent (99-80%)
- Monosomy X syndromeORPHA:99226 · Very frequent (99-80%)
- Mosaic monosomy X syndromeORPHA:99228 · Very frequent (99-80%)
- Non-acquired isolated growth hormone deficiencyORPHA:631 · Very frequent (99-80%)
- Noonan syndrome with multiple lentiginesORPHA:500 · Very frequent (99-80%)
- Parana hard skin syndromeORPHA:2812 · Very frequent (99-80%)
- Pili torti-developmental delay-neurological abnormalities syndromeORPHA:2891 · Very frequent (99-80%)
- Pitt-Hopkins syndromeORPHA:2896 · Very frequent (99-80%)
- Prader-Willi syndromeORPHA:739 · Very frequent (99-80%)
- Primary Fanconi renotubular syndromeORPHA:3337 · Very frequent (99-80%)
- Primary hypergonadotropic hypogonadism-partial alopecia syndromeORPHA:2232 · Very frequent (99-80%)
- Prominent glabella-microcephaly-hypogenitalism syndromeORPHA:2083 · Very frequent (99-80%)
- Pseudoprogeria syndromeORPHA:2985 · Very frequent (99-80%)
- Pyruvate dehydrogenase deficiencyORPHA:765 · Very frequent (99-80%)
- Rhizomelic chondrodysplasia punctataORPHA:177 · Very frequent (99-80%)
- Ring chromosome 13 syndromeORPHA:96176 · Very frequent (99-80%)
- Semilobar holoprosencephalyORPHA:220386 · Very frequent (99-80%)
- Severe generalized junctional epidermolysis bullosaORPHA:79404 · Very frequent (99-80%)
- Short stature due to GHSR deficiencyORPHA:314811 · Very frequent (99-80%)
- Short stature due to partial GHR deficiencyORPHA:314802 · Very frequent (99-80%)
- Short stature due to primary acid-labile subunit deficiencyORPHA:140941 · Very frequent (99-80%)
- Short stature, Brussels typeORPHA:2867 · Very frequent (99-80%)
- Smith-Lemli-Opitz syndromeORPHA:818 · Very frequent (99-80%)
- Spondyloepiphyseal dysplasia congenitaORPHA:94068 · Very frequent (99-80%)
- Spondylometaphyseal dysplasia, Kozlowski typeORPHA:93314 · Very frequent (99-80%)
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeORPHA:391487 · Very frequent (99-80%)
- Thyroid hemiagenesisORPHA:95719 · Very frequent (99-80%)
- Thyroid hypoplasiaORPHA:95720 · Very frequent (99-80%)
- Trisomy 10p syndromeORPHA:171929 · Very frequent (99-80%)
- Trisomy 18 syndromeORPHA:3380 · Very frequent (99-80%)
- Turner syndromeORPHA:881 · Very frequent (99-80%)
- Turner syndrome due to structural X chromosome anomaliesORPHA:99413 · Very frequent (99-80%)
- Ulnar/fibula ray defect-brachydactyly syndromeORPHA:52056 · Very frequent (99-80%)
- Vitamin B12-unresponsive methylmalonic acidemia type mut0ORPHA:289916 · Very frequent (99-80%)
- Wolcott-Rallison syndromeORPHA:1667 · Very frequent (99-80%)
- Woodhouse-Sakati syndromeORPHA:3464 · Very frequent (99-80%)
- X small rings syndromeORPHA:96201 · Very frequent (99-80%)
- X-linked intellectual disability, Golabi-Ito-Hall typeORPHA:93947 · Very frequent (99-80%)
- Xp21 deletion syndromeORPHA:261476 · Very frequent (99-80%)
- 19p13.3 microduplication syndromeORPHA:447980 · Frequent (79-30%)
- 1q44 microdeletion syndromeORPHA:238769 · Frequent (79-30%)
- 20q11.2 microduplication syndromeORPHA:363659 · Frequent (79-30%)
- 2p15p16.1 microdeletion syndromeORPHA:261349 · Frequent (79-30%)
- 2q23.1 microdeletion syndromeORPHA:228402 · Frequent (79-30%)
- 2q32q33 deletion syndromeORPHA:251019 · Frequent (79-30%)
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndromeORPHA:445038 · Frequent (79-30%)
- 8p23.1 microdeletion syndromeORPHA:251071 · Frequent (79-30%)
- Alopecia-intellectual disability syndromeORPHA:2850 · Frequent (79-30%)
- AthyreosisORPHA:95713 · Frequent (79-30%)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe formORPHA:79396 · Frequent (79-30%)
- Autosomal dominant hypophosphatemic ricketsORPHA:89937 · Frequent (79-30%)
- Autosomal dominant Kenny-Caffey syndromeORPHA:93325 · Frequent (79-30%)
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeORPHA:363429 · Frequent (79-30%)
- Autosomal recessive Kenny-Caffey syndromeORPHA:93324 · Frequent (79-30%)
- Autosomal recessive polycystic kidney diseaseORPHA:731 · Frequent (79-30%)
- Autosomal recessive spastic paraplegia type 20ORPHA:101000 · Frequent (79-30%)
- Autosomal recessive spastic paraplegia type 9BORPHA:447760 · Frequent (79-30%)
- Beta-thalassemia majorORPHA:231214 · Frequent (79-30%)
- Blepharophimosis-intellectual disability syndrome, SBBYS typeORPHA:3047 · Frequent (79-30%)
- Carey-Fineman-Ziter syndromeORPHA:1358 · Frequent (79-30%)
- CDKL5-deficiency disorderORPHA:505652 · Frequent (79-30%)
- Chronic neurovisceral acid sphingomyelinase deficiencyORPHA:618891 · Frequent (79-30%)
- Chylomicron retention diseaseORPHA:71 · Frequent (79-30%)
- Coffin-Siris syndromeORPHA:1465 · Frequent (79-30%)
- COG4-CDGORPHA:263501 · Frequent (79-30%)
- Combined pituitary hormone deficiencies, genetic formsORPHA:95494 · Frequent (79-30%)
- Congenital pulmonary lymphangiectasiaORPHA:2414 · Frequent (79-30%)
- CystinosisORPHA:213 · Frequent (79-30%)
- Diamond-Blackfan anemiaORPHA:124 · Frequent (79-30%)
- Distal deletion 15q syndromeORPHA:1596 · Frequent (79-30%)
- Distal renal tubular acidosisORPHA:18 · Frequent (79-30%)
- Early-onset epilepsy-intellectual disability-brain anomalies syndromeORPHA:488635 · Frequent (79-30%)
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndromeORPHA:3240 · Frequent (79-30%)
- Emanuel syndromeORPHA:96170 · Frequent (79-30%)
- Familial hypoaldosteronismORPHA:427 · Frequent (79-30%)
- Fanconi-Bickel syndromeORPHA:2088 · Frequent (79-30%)
- Fatal infantile lactic acidosis with methylmalonic aciduriaORPHA:17 · Frequent (79-30%)
- Fatty acyl-CoA reductase 1 deficiencyORPHA:438178 · Frequent (79-30%)
- Filippi syndromeORPHA:3255 · Frequent (79-30%)
- Floating-Harbor syndromeORPHA:2044 · Frequent (79-30%)
- Gaucher diseaseORPHA:355 · Frequent (79-30%)
- Gaucher disease type 3ORPHA:77261 · Frequent (79-30%)
- Geroderma osteodysplasticaORPHA:2078 · Frequent (79-30%)
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeORPHA:488613 · Frequent (79-30%)
- Glycogen storage disease due to acid maltase deficiencyORPHA:365 · Frequent (79-30%)
- Glycogen storage disease due to liver glycogen phosphorylase deficiencyORPHA:369 · Frequent (79-30%)
- Glycogen storage disease due to liver phosphorylase kinase deficiencyORPHA:264580 · Frequent (79-30%)
- Heme oxygenase-1 deficiencyORPHA:562509 · Frequent (79-30%)
- Hereditary arginine vasopressin deficiencyORPHA:30925 · Frequent (79-30%)
- Hereditary fructose intoleranceORPHA:469 · Frequent (79-30%)
- Hereditary hypophosphatemic rickets with hypercalciuriaORPHA:157215 · Frequent (79-30%)
- Hurler syndromeORPHA:93473 · Frequent (79-30%)
- Hyperphosphatasia-intellectual disability syndromeORPHA:247262 · Frequent (79-30%)
- HypophosphatasiaORPHA:436 · Frequent (79-30%)
- Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA:226307 · Frequent (79-30%)
- Ichthyosis follicularis-alopecia-photophobia syndromeORPHA:2273 · Frequent (79-30%)
- Isolated thyroid-stimulating hormone deficiencyORPHA:90674 · Frequent (79-30%)
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14ORPHA:96334 · Frequent (79-30%)
- Kallmann syndrome-heart disease syndromeORPHA:2326 · Frequent (79-30%)
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndromeORPHA:457193 · Frequent (79-30%)
- Leigh syndromeORPHA:506 · Frequent (79-30%)
- Lobar holoprosencephalyORPHA:93924 · Frequent (79-30%)
- Lowry-MacLean syndromeORPHA:2409 · Frequent (79-30%)
- Lysinuric protein intoleranceORPHA:470 · Frequent (79-30%)
- Malonic aciduriaORPHA:943 · Frequent (79-30%)
- Maternal uniparental disomy of chromosome 1 syndromeORPHA:251009 · Frequent (79-30%)
- MECP2-related severe neonatal encephalopathyORPHA:209370 · Frequent (79-30%)
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaORPHA:99646 · Frequent (79-30%)
- Methylmalonic acidemia with homocystinuria type cblFORPHA:79284 · Frequent (79-30%)
- Methylmalonic acidemia with homocystinuria, type cblCORPHA:79282 · Frequent (79-30%)
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeORPHA:502423 · Frequent (79-30%)
- Monosomy 18q syndromeORPHA:1600 · Frequent (79-30%)
- Mowat-Wilson syndromeORPHA:2152 · Frequent (79-30%)
- Mucopolysaccharidosis type 2ORPHA:580 · Frequent (79-30%)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionORPHA:352665 · Frequent (79-30%)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationORPHA:453504 · Frequent (79-30%)
- Non-acquired panhypopituitarismORPHA:90695 · Frequent (79-30%)
- Oculocerebral hypopigmentation syndrome, Cross typeORPHA:2719 · Frequent (79-30%)
- Oculocerebrofacial syndrome, Kaufman typeORPHA:2707 · Frequent (79-30%)
- Oculoectodermal syndromeORPHA:3339 · Frequent (79-30%)
- Orofaciodigital syndrome type 4ORPHA:2753 · Frequent (79-30%)
- Orofaciodigital syndrome type 6ORPHA:2754 · Frequent (79-30%)
- PhenylketonuriaORPHA:716 · Frequent (79-30%)
- Pontocerebellar hypoplasia type 10ORPHA:411493 · Frequent (79-30%)
- Primary intestinal lymphangiectasiaORPHA:90362 · Frequent (79-30%)
- Proximal renal tubular acidosisORPHA:47159 · Frequent (79-30%)
- Pyruvate carboxylase deficiencyORPHA:3008 · Frequent (79-30%)
- Renpenning syndromeORPHA:3242 · Frequent (79-30%)
- Resistance to thyrotropin-releasing hormone syndromeORPHA:99832 · Frequent (79-30%)
- Rett syndromeORPHA:778 · Frequent (79-30%)
- Revesz syndromeORPHA:3088 · Frequent (79-30%)
- Ring chromosome 15 syndromeORPHA:96177 · Frequent (79-30%)
- Ring chromosome 22 syndromeORPHA:1446 · Frequent (79-30%)
- Ring chromosome 9 syndromeORPHA:96173 · Frequent (79-30%)
- Rothmund-Thomson syndrome type 1ORPHA:221008 · Frequent (79-30%)
- Rothmund-Thomson syndrome type 2ORPHA:221016 · Frequent (79-30%)
- S-adenosylhomocysteine hydrolase deficiencyORPHA:88618 · Frequent (79-30%)
- Schimke immuno-osseous dysplasiaORPHA:1830 · Frequent (79-30%)
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeORPHA:466688 · Frequent (79-30%)
- Shwachman-Diamond syndromeORPHA:811 · Frequent (79-30%)
- Sudden infant death-dysgenesis of the testes syndromeORPHA:168593 · Frequent (79-30%)
- Temtamy preaxial brachydactyly syndromeORPHA:363417 · Frequent (79-30%)
- Thyroid ectopiaORPHA:95712 · Frequent (79-30%)
- TMEM70-related mitochondrial encephalo-cardio-myopathyORPHA:1194 · Frequent (79-30%)
- Trichomegaly-retina pigmentary degeneration-dwarfism syndromeORPHA:3363 · Frequent (79-30%)
- Trisomy 17p syndromeORPHA:261290 · Frequent (79-30%)
- VPS11-related autosomal recessive hypomyelinating leukodystrophyORPHA:466934 · Frequent (79-30%)
- Wiedemann-Rautenstrauch syndromeORPHA:3455 · Frequent (79-30%)
- Wolman diseaseORPHA:75233 · Frequent (79-30%)
- X-linked hypophosphatemiaORPHA:89936 · Frequent (79-30%)
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeORPHA:459070 · Frequent (79-30%)
- X-linked intellectual disability, Wilson typeORPHA:85290 · Frequent (79-30%)
- Xq21 microdeletion syndromeORPHA:1435 · Frequent (79-30%)
- XYLT1-CDGORPHA:370930 · Frequent (79-30%)
- 22q11.2 duplication syndromeORPHA:1727 · Occasional (29-5%)
- 7q11.23 microduplication syndromeORPHA:96121 · Occasional (29-5%)
- 8p11.2 deletion syndromeORPHA:251066 · Occasional (29-5%)
- Ablepharon macrostomia syndromeORPHA:920 · Occasional (29-5%)
- Absence of the pulmonary arteryORPHA:980 · Occasional (29-5%)
- Alpha-heavy chain diseaseORPHA:100025 · Occasional (29-5%)
- Andersen-Tawil syndromeORPHA:37553 · Occasional (29-5%)
- Anophthalmia/microphthalmia-esophageal atresia syndromeORPHA:77298 · Occasional (29-5%)
- Arginine vasopressin resistanceORPHA:223 · Occasional (29-5%)
- Atypical Rett syndromeORPHA:3095 · Occasional (29-5%)
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiencyORPHA:436159 · Occasional (29-5%)
- Axenfeld-Rieger syndromeORPHA:782 · Occasional (29-5%)
- Beta-ureidopropionase deficiencyORPHA:65287 · Occasional (29-5%)
- Bilateral generalized polymicrogyriaORPHA:208447 · Occasional (29-5%)
- Brain-lung-thyroid syndromeORPHA:209905 · Occasional (29-5%)
- CACH syndromeORPHA:135 · Occasional (29-5%)
- CINCA syndromeORPHA:1451 · Occasional (29-5%)
- Congenital intrinsic factor deficiencyORPHA:332 · Occasional (29-5%)
- CraniopharyngiomaORPHA:54595 · Occasional (29-5%)
- DihydropyrimidinuriaORPHA:38874 · Occasional (29-5%)
- Distal 22q11.2 microdeletion syndromeORPHA:261330 · Occasional (29-5%)
- Distal deletion 12q syndromeORPHA:96149 · Occasional (29-5%)
- Dopa-responsive dystonia due to sepiapterin reductase deficiencyORPHA:70594 · Occasional (29-5%)
- Esophageal atresiaORPHA:1199 · Occasional (29-5%)
- Fanconi anemiaORPHA:84 · Occasional (29-5%)
- Frontometaphyseal dysplasiaORPHA:1826 · Occasional (29-5%)
- GAPO syndromeORPHA:2067 · Occasional (29-5%)
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeORPHA:2072 · Occasional (29-5%)
- Generalized juvenile polyposis/juvenile polyposis coliORPHA:329971 · Occasional (29-5%)
- Glycogen storage disease due to aldolase A deficiencyORPHA:57 · Occasional (29-5%)
- Hereditary bullous dystrophy, macular typeORPHA:1867 · Occasional (29-5%)
- Hereditary sensory and autonomic neuropathy type 4ORPHA:642 · Occasional (29-5%)
- Hirschsprung diseaseORPHA:388 · Occasional (29-5%)
- Homocystinuria without methylmalonic aciduriaORPHA:622 · Occasional (29-5%)
- Hyperimmunoglobulinemia D with periodic feverORPHA:343 · Occasional (29-5%)
- Intermediate generalized junctional epidermolysis bullosaORPHA:79402 · Occasional (29-5%)
- Inverted duplicated chromosome 15 syndromeORPHA:3306 · Occasional (29-5%)
- Juvenile nephropathic cystinosisORPHA:411634 · Occasional (29-5%)
- Juvenile polyposis syndromeORPHA:2929 · Occasional (29-5%)
- Kleefstra syndrome due to 9q34 microdeletionORPHA:96147 · Occasional (29-5%)
- Langerhans cell histiocytosisORPHA:389 · Occasional (29-5%)
- Leukocyte adhesion deficiencyORPHA:2968 · Occasional (29-5%)
- Linear nevus sebaceus syndromeORPHA:2612 · Occasional (29-5%)
- Maffucci syndromeORPHA:163634 · Occasional (29-5%)
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectORPHA:485421 · Occasional (29-5%)
- Microphthalmia with linear skin defects syndromeORPHA:2556 · Occasional (29-5%)
- Mosaic variegated aneuploidy syndromeORPHA:1052 · Occasional (29-5%)
- Obesity due to pro-opiomelanocortin deficiencyORPHA:71526 · Occasional (29-5%)
- Obesity due to prohormone convertase I deficiencyORPHA:71528 · Occasional (29-5%)
- Oncogenic osteomalaciaORPHA:352540 · Occasional (29-5%)
- Optic pathway gliomaORPHA:2086 · Occasional (29-5%)
- Osteogenesis imperfectaORPHA:666 · Occasional (29-5%)
- Pancreatic triacylglycerol lipase deficiencyORPHA:309031 · Occasional (29-5%)
- Pearson syndromeORPHA:699 · Occasional (29-5%)
- Pelizaeus-Merzbacher disease in female carriersORPHA:280229 · Occasional (29-5%)
- Pseudohypoaldosteronism type 2ORPHA:757 · Occasional (29-5%)
- Recessive dystrophic epidermolysis bullosa inversaORPHA:79409 · Occasional (29-5%)
- Renal hypoplasia, bilateralORPHA:97362 · Occasional (29-5%)
- Ring chromosome 11 syndromeORPHA:96175 · Occasional (29-5%)
- Ring chromosome 17 syndromeORPHA:1441 · Occasional (29-5%)
- Ring chromosome 19 syndromeORPHA:1443 · Occasional (29-5%)
- Ring chromosome 20 syndromeORPHA:1444 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletionORPHA:353281 · Occasional (29-5%)
- SATB2-associated syndrome due to a pathogenic variantORPHA:576283 · Occasional (29-5%)
- Secondary short bowel syndromeORPHA:95427 · Occasional (29-5%)
- Selective IgM deficiencyORPHA:331235 · Occasional (29-5%)
- Severe congenital hypochromic anemia with ringed sideroblastsORPHA:300298 · Occasional (29-5%)
- Short stature-delayed bone age due to thyroid hormone metabolism deficiencyORPHA:171706 · Occasional (29-5%)
- Systemic-onset juvenile idiopathic arthritisORPHA:85414 · Occasional (29-5%)
- Trichorhinophalangeal syndrome type 2ORPHA:502 · Occasional (29-5%)
- Unstable beta globin chain variant diseaseORPHA:231226 · Occasional (29-5%)
- X-linked alpha-thalassemia-intellectual disability syndromeORPHA:847 · Occasional (29-5%)
- X-linked sideroblastic anemia and spinocerebellar ataxiaORPHA:2802 · Occasional (29-5%)
- Zimmermann-Laband syndromeORPHA:3473 · Occasional (29-5%)
- Autosomal dominant spastic paraplegia type 3ORPHA:100984 · Very rare (<4-1%)
- Hereditary spherocytosisORPHA:822 · Very rare (<4-1%)
- Idiopathic steroid-resistant nephrotic syndromeORPHA:567548 · Very rare (<4-1%)
- Post-traumatic pituitary deficiencyORPHA:95619 · Very rare (<4-1%)
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeORPHA:496756 · Excluded (0%)
- Junctional epidermolysis bullosa inversaORPHA:79405 · Excluded (0%)
- Late-onset junctional epidermolysis bullosaORPHA:79406 · Excluded (0%)
- Localized dystrophic epidermolysis bullosa, pretibial formORPHA:79410 · Excluded (0%)
- Pancreatic colipase deficiencyORPHA:309108 · Excluded (0%)
- Self-improving dystrophic epidermolysis bullosaORPHA:79411 · Excluded (0%)