| 1 | Birth length less than 3rd percentile (HP:0003561) | 6.03211066 |
| 2 | Breast hypoplasia (HP:0003187) | 4.87938277 |
| 3 | Reticulocytopenia (HP:0001896) | 4.59954087 |
| 4 | Chromsome breakage (HP:0040012) | 4.45755190 |
| 5 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 4.30125739 |
| 6 | Patellar aplasia (HP:0006443) | 4.21918367 |
| 7 | Carpal bone hypoplasia (HP:0001498) | 4.03448807 |
| 8 | Oral leukoplakia (HP:0002745) | 4.02709600 |
| 9 | Aplasia/Hypoplasia of the patella (HP:0006498) | 4.00625278 |
| 10 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.96478617 |
| 11 | Abnormal number of erythroid precursors (HP:0012131) | 3.83869757 |
| 12 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.83054016 |
| 13 | Acute encephalopathy (HP:0006846) | 3.75282937 |
| 14 | Abnormality of the preputium (HP:0100587) | 3.58345853 |
| 15 | Meckel diverticulum (HP:0002245) | 3.52077700 |
| 16 | Progressive macrocephaly (HP:0004481) | 3.44312836 |
| 17 | Cerebral hypomyelination (HP:0006808) | 3.40285644 |
| 18 | Abnormality of chromosome stability (HP:0003220) | 3.40134630 |
| 19 | Abnormal ciliary motility (HP:0012262) | 3.39543806 |
| 20 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.38464337 |
| 21 | Abnormality of the ileum (HP:0001549) | 3.33460963 |
| 22 | Aplastic anemia (HP:0001915) | 3.31882976 |
| 23 | Rough bone trabeculation (HP:0100670) | 3.23332673 |
| 24 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.22133313 |
| 25 | Renal Fanconi syndrome (HP:0001994) | 3.19891061 |
| 26 | Abnormality of the anterior horn cell (HP:0006802) | 3.13503563 |
| 27 | Degeneration of anterior horn cells (HP:0002398) | 3.13503563 |
| 28 | Rhinitis (HP:0012384) | 3.09553870 |
| 29 | Macrocytic anemia (HP:0001972) | 3.09474700 |
| 30 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 3.08538723 |
| 31 | Colon cancer (HP:0003003) | 2.98199746 |
| 32 | Premature ovarian failure (HP:0008209) | 2.97091616 |
| 33 | Secondary amenorrhea (HP:0000869) | 2.93253100 |
| 34 | Cerebral edema (HP:0002181) | 2.89787401 |
| 35 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.89488771 |
| 36 | Absent radius (HP:0003974) | 2.85955810 |
| 37 | Hepatic necrosis (HP:0002605) | 2.85162734 |
| 38 | Impulsivity (HP:0100710) | 2.84991226 |
| 39 | Pallor (HP:0000980) | 2.83584717 |
| 40 | Absent thumb (HP:0009777) | 2.81578882 |
| 41 | Microretrognathia (HP:0000308) | 2.81098741 |
| 42 | Lipid accumulation in hepatocytes (HP:0006561) | 2.78378447 |
| 43 | Horseshoe kidney (HP:0000085) | 2.75904271 |
| 44 | Volvulus (HP:0002580) | 2.74349523 |
| 45 | Duodenal stenosis (HP:0100867) | 2.71831775 |
| 46 | Small intestinal stenosis (HP:0012848) | 2.71831775 |
| 47 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.68138301 |
| 48 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.67574362 |
| 49 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.67574362 |
| 50 | Aplasia involving forearm bones (HP:0009822) | 2.67158138 |
| 51 | Absent forearm bone (HP:0003953) | 2.67158138 |
| 52 | Bone marrow hypocellularity (HP:0005528) | 2.64165879 |
| 53 | Premature graying of hair (HP:0002216) | 2.64117065 |
| 54 | Selective tooth agenesis (HP:0001592) | 2.64071626 |
| 55 | Myelodysplasia (HP:0002863) | 2.62201931 |
| 56 | Abnormality of the labia minora (HP:0012880) | 2.60723334 |
| 57 | Abnormality of midbrain morphology (HP:0002418) | 2.53677738 |
| 58 | Molar tooth sign on MRI (HP:0002419) | 2.53677738 |
| 59 | Triphalangeal thumb (HP:0001199) | 2.53220187 |
| 60 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.48594718 |
| 61 | Absent/shortened dynein arms (HP:0200106) | 2.48594718 |
| 62 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.45559754 |
| 63 | Multiple enchondromatosis (HP:0005701) | 2.44203124 |
| 64 | Abnormal trabecular bone morphology (HP:0100671) | 2.41624979 |
| 65 | Trismus (HP:0000211) | 2.40935709 |
| 66 | Tracheoesophageal fistula (HP:0002575) | 2.36733744 |
| 67 | Cellular immunodeficiency (HP:0005374) | 2.36617788 |
| 68 | Neoplasm of the pancreas (HP:0002894) | 2.35967150 |
| 69 | Cleft eyelid (HP:0000625) | 2.35844747 |
| 70 | Male infertility (HP:0003251) | 2.35049035 |
| 71 | Abnormal lung lobation (HP:0002101) | 2.34858520 |
| 72 | Stenosis of the external auditory canal (HP:0000402) | 2.32533987 |
| 73 | Hyperglycinemia (HP:0002154) | 2.31560462 |
| 74 | Hypokinesia (HP:0002375) | 2.30920247 |
| 75 | Abnormality of methionine metabolism (HP:0010901) | 2.30351354 |
| 76 | Sloping forehead (HP:0000340) | 2.29932071 |
| 77 | Type I transferrin isoform profile (HP:0003642) | 2.29144107 |
| 78 | Lactic acidosis (HP:0003128) | 2.28953222 |
| 79 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.28352176 |
| 80 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.28352176 |
| 81 | Medulloblastoma (HP:0002885) | 2.27378522 |
| 82 | Supernumerary spleens (HP:0009799) | 2.25586862 |
| 83 | Methylmalonic acidemia (HP:0002912) | 2.24398936 |
| 84 | Ectopic kidney (HP:0000086) | 2.23988273 |
| 85 | Megaloblastic anemia (HP:0001889) | 2.23830856 |
| 86 | Abnormality of renal resorption (HP:0011038) | 2.20369911 |
| 87 | Median cleft lip (HP:0000161) | 2.20353767 |
| 88 | 11 pairs of ribs (HP:0000878) | 2.20007281 |
| 89 | Sensory axonal neuropathy (HP:0003390) | 2.15596083 |
| 90 | Rhabdomyosarcoma (HP:0002859) | 2.12995126 |
| 91 | Abnormality of the duodenum (HP:0002246) | 2.12989273 |
| 92 | Pancreatic fibrosis (HP:0100732) | 2.12586219 |
| 93 | Pancytopenia (HP:0001876) | 2.12325844 |
| 94 | Increased intramyocellular lipid droplets (HP:0012240) | 2.10969847 |
| 95 | Short thumb (HP:0009778) | 2.10841867 |
| 96 | Chronic bronchitis (HP:0004469) | 2.10387114 |
| 97 | Exercise intolerance (HP:0003546) | 2.10320586 |
| 98 | Atresia of the external auditory canal (HP:0000413) | 2.09839778 |
| 99 | Muscle fiber atrophy (HP:0100295) | 2.07611194 |
| 100 | Agnosia (HP:0010524) | 2.06563261 |
| 101 | Increased hepatocellular lipid droplets (HP:0006565) | 2.06137557 |
| 102 | Increased serum lactate (HP:0002151) | 2.05087425 |
| 103 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.04626076 |
| 104 | Abnormal spermatogenesis (HP:0008669) | 2.04255138 |
| 105 | Abnormal number of incisors (HP:0011064) | 2.03973202 |
| 106 | Oligodactyly (hands) (HP:0001180) | 2.01512862 |
| 107 | Duplicated collecting system (HP:0000081) | 2.01075458 |
| 108 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.00929264 |
| 109 | Exertional dyspnea (HP:0002875) | 2.00464707 |
| 110 | Adrenal hypoplasia (HP:0000835) | 2.00233841 |
| 111 | Clubbing of toes (HP:0100760) | 1.99800339 |
| 112 | Infertility (HP:0000789) | 1.99463038 |
| 113 | 3-Methylglutaconic aciduria (HP:0003535) | 1.99152747 |
| 114 | Facial hemangioma (HP:0000329) | 1.98816803 |
| 115 | Abnormality of the carotid arteries (HP:0005344) | 1.98189219 |
| 116 | Leukodystrophy (HP:0002415) | 1.97953622 |
| 117 | Type 2 muscle fiber atrophy (HP:0003554) | 1.97744622 |
| 118 | Breast aplasia (HP:0100783) | 1.96847583 |
| 119 | Hepatocellular necrosis (HP:0001404) | 1.96591648 |
| 120 | Respiratory failure (HP:0002878) | 1.95849837 |
| 121 | Reduced antithrombin III activity (HP:0001976) | 1.95792425 |
| 122 | Aplasia/Hypoplasia of the breasts (HP:0010311) | 1.95227241 |
| 123 | Slender long bone (HP:0003100) | 1.93386480 |
| 124 | Increased CSF lactate (HP:0002490) | 1.93094751 |
| 125 | CNS hypomyelination (HP:0003429) | 1.93016046 |
| 126 | Squamous cell carcinoma (HP:0002860) | 1.92275299 |
| 127 | Medial flaring of the eyebrow (HP:0010747) | 1.92011347 |
| 128 | Sparse eyelashes (HP:0000653) | 1.92008115 |
| 129 | Pulmonary fibrosis (HP:0002206) | 1.90501053 |
| 130 | Testicular atrophy (HP:0000029) | 1.90423382 |
| 131 | Lethargy (HP:0001254) | 1.88170003 |
| 132 | Facial cleft (HP:0002006) | 1.87920596 |
| 133 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.87124357 |
| 134 | Irregular epiphyses (HP:0010582) | 1.86738430 |
| 135 | Unsteady gait (HP:0002317) | 1.86538457 |
| 136 | Methylmalonic aciduria (HP:0012120) | 1.86416224 |
| 137 | IgM deficiency (HP:0002850) | 1.86059156 |
| 138 | Mitochondrial inheritance (HP:0001427) | 1.85922498 |
| 139 | Generalized aminoaciduria (HP:0002909) | 1.85429944 |
| 140 | Thrombocytosis (HP:0001894) | 1.85075956 |
| 141 | Abnormal protein glycosylation (HP:0012346) | 1.84803859 |
| 142 | Abnormal glycosylation (HP:0012345) | 1.84803859 |
| 143 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.84803859 |
| 144 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.84803859 |
| 145 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.84432332 |
| 146 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 1.84395812 |
| 147 | Pancreatic cysts (HP:0001737) | 1.84326267 |
| 148 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.84129066 |
| 149 | Respiratory difficulties (HP:0002880) | 1.84117797 |
| 150 | Glycosuria (HP:0003076) | 1.83514240 |
| 151 | Abnormality of urine glucose concentration (HP:0011016) | 1.83514240 |
| 152 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.81049226 |
| 153 | Absent epiphyses (HP:0010577) | 1.81049226 |
| 154 | Hypoplasia of the radius (HP:0002984) | 1.79062822 |
| 155 | Ependymoma (HP:0002888) | 1.78325731 |
| 156 | Oligodactyly (HP:0012165) | 1.78072297 |
| 157 | Acute necrotizing encephalopathy (HP:0006965) | 1.78007995 |
| 158 | Abnormality of abdominal situs (HP:0011620) | 1.77689295 |
| 159 | Abdominal situs inversus (HP:0003363) | 1.77689295 |
| 160 | Abnormality of serum amino acid levels (HP:0003112) | 1.74985626 |
| 161 | Hypoglycemic coma (HP:0001325) | 1.73487506 |
APITD1 
